Miracle-dz/UniFAR-FTUs huggingface dataset:
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by progressive distal degeneration of the corticospinal tracts. Among the 79 loci and 65 spastic paraplegia genes (SPGs) involved in HSPs, mutations in SPAST, which encodes spastin, responsible for SPG4, are the most frequent cause of both familial and sporadic HSP. SPG4 is characterized by a clinically pure phenotype associated with restricted involvement of the corticospinal tracts and posterior columns of the spinal cord. It is rarely associated with additional neurological signs. However, both age of onset and severity of the disorder are extremely variable. Such variability is both intra- and inter-familial and may suggest incomplete penetrance, with some patients carrying mutations remaining asymptomatic for their entire life. We analysed a cohort of 842 patients with SPG4-HSP to assess genotype-phenotype correlations. Most patients were French (89%) and had a family history of SPG4-HSP (75%). Age at onset was characterized by a bimodal distribution, with high inter-familial and intra-familial variability, especially concerning first-degree relatives. Penetrance of the disorder was 0.9, complete after 70 years of age. Penetrance was lower in females (0.88 versus 0.94 in males, P = 0.01), despite a more diffuse phenotype with more frequent upper limb involvement. Seventy-seven per cent of pathogenic mutations (missense, frameshift, splice site, nonsense, and deletions) were located in the AAA cassette of spastin, impairing its microtubule-severing activity. A comparison of the missense and truncating mutations revealed a significantly lower age at onset for patients carrying missense mutations than those carrying truncating mutations, explaining the bimodal distribution of the age at onset. The age at onset for patients carrying missense mutations was often before 10 years, sometimes associated with intellectual deficiency. Neuropathological examination of a single case showed degeneration of the spinocerebellar and spinocortical tracts, as well as the posterior columns. However, there were numerous small-diameter processes among unusually large myelinated fibres in the corticospinal tract, suggesting marked regeneration. In conclusion, this large cohort of 842 individuals allowed us to identify a significantly younger age at onset in missense mutation carriers and lower penetrance in females, despite a more severe disorder. Neuropathology in one case showed numerous small fibres suggesting regeneration.
EFFECTIVE STRATEGIES IN THE PREVENTION OF NOISE INDUCED HEARING LOSS

Background This paper reports on the second part of a major study in New Zealand to identify effective strategies for the prevention of noise induced hearing loss (NIHL). Aims/Objectives/Purpose The objective of the project was to evaluate existing work-related interventions to reduce NIHL, to identify critical factors in the development and implementation of such strategies, and to propose strategies/interventions where current interventions are considered ineffective. In addition, the research examined those aspects of workplace culture that affect decision-making around NIHL. Methods A systematic review of the research literature was completed specifically focussing on the effectiveness of interventions in the prevention of NIHL. Data collection involved surveys of specific industry sectors with ‘high, medium and low’ risk of NIHL. In addition to area noise measurements and personal dosimetry, assessments of the organisation's conformance to current noise management standards and safety climate data were undertaken. Results/Outcome Five key effective strategies were identified from the literature. As anticipated, area and personal noise exposures were found to vary considerably within the ‘high risk’ (agriculture, manufacturing and construction; range: LAeq 8 h 80–90 dB), ‘moderate risk’ (cafes and restaurants) and ‘low risk’ sectors (pre-schools; range LAeq 8 h 70–80 dB). Most enterprises surveyed did not conform to the specific requirements of the noise management standard (Code of Practice). Safety climate was not the major factor in noise management within the enterprises. Significance/Contribution to the Field The research provided disappointing evidence on the implementation of noise management strategies in NZ businesses. As a consequence of the research, a comprehensive multi-level intervention strategy is proposed.
Risk factors for graft loss in kidney transplant recipients with g3 glomerulitis: A single-center experience .

BACKGROUND Risk factors for graft loss in kidney transplant recipients with g3 lesions are poorly defined. MATERIALS AND METHODS We evaluated outcomes in 37 consecutive kidney transplant biopsies diagnosed with g3 glomerulitis based on Banff 2013 criteria in a single-center observational study. RESULTS The diagnosis of g3 glomerulonephritis was made 6.1 ± 6.6 years after transplant. The majority of patients were Caucasian (86%), male (65%), and received basiliximab induction (54%). At the time of biopsy, all were on triple therapy with tacrolimus, mycophenolate, and prednisone. Mean serum creatinine (Scr) was 2.85 ± 2.1 mg/dL. Notably, 20 (54%) were positive for donor-specific antibodies (DSA+) and 8 (22%) were C4d+, while 24 (65%) had transplant glomerulopathy (TG). Treatment included pulse steroids/intravenous immunoglobulin (IVIG) (73%) and rituximab (51%). Patients were followed for up to 4 years after the biopsy. Eleven grafts (30%) were lost during the follow-up. Cox regression analyses determined Scr (HR = 1.63, 95% CI 1.19 - 2.24, p = 0.002), live donor status (HR = 0.18, 95% CI 0.04 - 0.90, p = 0.03), t-score (HR = 2.75, 95% CI 1.30 - 5.81, p = 0.008), and ct-score (HR = 2.19, 95% CI 1 - 4.75, p = 0.04) as significant predictors of graft loss. CONCLUSION Severe glomerulitis was associated with a high prevalence of TG and graft loss at 4 years. Live donor status, kidney function (Scr), and tubular injury (t- and ct-scores) were independently associated with graft loss. Interventional mechanistic clinical trials are needed to better understand the pathogenesis and outcomes of g3 glomerulitis.
Therapists’ Empathic Accuracy Toward Their Clients’ Emotions

Objective: Therapists’ empathic accuracy (EA) toward their clients’ fluctuating emotions is a crucial clinical skill that underlies many therapeutic interventions. In contrast to the subjective components of empathy, limited empirical work has addressed EA or its effect on the outcomes of psychotherapy. Here, we differentiate between the components of EA (tracking accuracy, directional discrepancy) as well as the valence of the target emotions (positive vs. negative). We also investigated the relative contribution of cognitive and emotional processes to therapists’ EA and examined the associations between EA and treatment outcomes. Method: The sample comprised 93 clients treated by 62 therapists in a university setting. Prior to each session, clients self-reported their symptoms. Following each session, clients rated their positive (PE) and negative (NE) emotions during the session and therapists rated their own emotions, as well as their assessment of their clients’ emotions. Results: Therapists accurately tracked their clients’ PE and NE and were more accurate for NE. Therapists tended to overestimate their clients’ NE and underestimate their clients’ PE. Therapists’ emotions were associated with their clients’ emotions (real similarity). Therapists’ emotions were also associated with their assessments of their clients’ emotions (assumed similarity). Therapists’ own emotions partially mediated the association between clients’ emotions and therapists’ assessments. Therapists’ inaccuracy in assessing their clients’ PE was associated with higher reported symptoms in the next session. Conclusion: These findings help provide a better understanding of the specific characteristics associated with more EA and underscore the importance of EA in facilitating clients’ emotional well-being.
Unwanted effects due to interactions between dental materials and magnetic resonance imaging: a review of the literature

Magnetic resonance imaging (MRI) is an advanced diagnostic tool used in both medicine and dentistry. Since it functions based on a strong uniform static magnetic field and radiofrequency pulses, it is advantageous over imaging techniques that rely on ionizing radiation. Unfortunately, the magnetic field and radiofrequency pulses generated within the magnetic resonance imager interact unfavorably with dental materials that have magnetic properties. This leads to unwanted effects such as artifact formation, heat generation, and mechanical displacement. These are a potential source of damage to the oral tissue surrounding the affected dental materials. This review aims to compile, based on the current available evidence, recommendations for dentists and radiologists regarding the safety and appropriate management of dental materials during MRI in patients with orthodontic appliances, maxillofacial prostheses, dental implants, direct and indirect restorative materials, and endodontic materials.
A novel prediction score for predicting the baseline risk of recurrence of stage I–II endometrial carcinoma

Objective To develop and validate a 3-year recurrence prediction score (RPS) system for predicting the baseline risk of recurrence of stage I–II endometrial carcinoma. Methods We reviewed 427 patients with International Federation of Gynecology and Obstetrics staging I–II endometrial carcinoma underwent surgery without any adjuvant therapy from 2005 to 2013. The patients were divided into 2 groups: the test cohort (n=251) comprising those who underwent surgery in odd-numbered years, and the validation cohort (n=176) comprising those who underwent surgery in even-numbered years. Multivariate analysis was performed using 7 candidate predictors to identify the risk factors for 3-year recurrence-free interval (RFI) in the test cohort. Each risk factor was scored based on logistic regression analyses of the test data set, and the sum of the risk factor scores was defined as the RPS system. We then applied the system in the validation cohort. Results Multivariate analysis revealed that the significant risk factors were age ≥60 years, pathological type II, positive cervical stromal invasion, and positive peritoneal cytology. In the test cohort, the 3-year RFI rates were 100%, 95.8%, 79.9%, and 33.3% for RPSs of 0, 1, 2, and 3, respectively. In the validation cohort, the 3-year RFI was significantly higher in the low-RPS group (RPS 0 or 1) than in the high-RPS group (RPS 2 or 3) (95.2% vs. 79.9%, p<0.01). Conclusions The RPS system shows significant reproducibility for predicting the baseline risk of recurrence. The system could potentially impact the choice of adjuvant therapy for stage I–II endometrial carcinoma.
Rethinking ImageNet Pre-Training

We report competitive results on object detection and instance segmentation on the COCO dataset using standard models trained \textbf{from random initialization}. The results are \textbf{no worse} than their ImageNet pre-training counterparts even when using the hyper-parameters of the baseline system (Mask R-CNN) that were optimized for fine-tuning pre-trained models, with the sole exception of increasing the number of training iterations so the randomly initialized models may converge. Training from random initialization is surprisingly robust; our results hold even when: (i) using only 10\% of the training data, (ii) for deeper and wider models, and (iii) for multiple tasks and metrics. Experiments show that ImageNet pre-training speeds up convergence early in training, but does not necessarily provide regularization or improve final target task accuracy. To push the envelope we demonstrate {50.9}~AP on COCO object detection without using any external data---a result on par with the top COCO 2017 competition results that used ImageNet pre-training. These observations challenge the conventional wisdom of ImageNet pre-training for dependent tasks and we expect these discoveries will encourage people to rethink the current de facto paradigm of `pre-training and fine-tuning' in computer vision.
Making Agents’ Abilities Explicit

Alternating-time temporal logics (ATL/ATL*) represent a family of modal and temporal logics for reasoning about strategic abilities of agents in multiagent systems. These logics are usually interpreted over concurrent game structures (CGSs), and their interpretations may vary depending on the abilities of agents, such as perfect versus imperfect information and perfect versus imperfect recall. These different abilities lead to a variety of variants that have been studied extensively in the literature. However, all of these variants are defined at the semantic level, which may restrict modeling flexibility, or even give counter-intuitive interpretations. For example, an agent may have different abilities when achieving two different goals on the same CGS. To mitigate these issues, in this paper, we propose to extend CGSs with agents’ abilities, resulting in Abilities Augmented CGSs, where concrete abilities can be defined at the syntactic level. We study ATL/ATL* over this new model. We give formal definitions of the new semantics and present model-checking algorithms for ATL/ATL*. We also identify the computational complexity of ATL/ATL* model checking problem, i.e., $\Delta _{3}^{\sf P}$ -/2EXPTIME-complete. The model-checking algorithms are implemented in a prototype tool. The experimental results show the practical feasibility and effectiveness of our approach.
Cell and tissue type independent age-associated DNA methylation changes are not rare but common

Age-associated DNA methylation changes have been widely reported across many different tissue and cell types. Epigenetic ‘clocks’ that can predict chronological age with a surprisingly high degree of accuracy appear to do so independently of tissue and cell-type, suggesting that a component of epigenetic drift is cell-type independent. However, the relative amount of age-associated DNAm changes that are specific to a cell or tissue type versus the amount that occurs independently of cell or tissue type is unclear and a matter of debate, with a recent study concluding that most epigenetic drift is tissue-specific. Here, we perform a novel comprehensive statistical analysis, including matched multi cell-type and multi-tissue DNA methylation profiles from the same individuals and adjusting for cell-type heterogeneity, demonstrating that a substantial amount of epigenetic drift, possibly over 70%, is shared between significant numbers of different tissue/cell types. We further show that ELOVL2 is not unique and that many other CpG sites, some mapping to genes in the Wnt and glutamate receptor signaling pathways, are altered with age across at least 10 different cell/tissue types. We propose that while most age-associated DNAm changes are shared between cell-types that the putative functional effect is likely to be tissue-specific.
Influence of microwave, the combined microwave/hot air and only hot air roasting on the formation of heat-induced contaminants of carob powders

ABSTRACT This study aims to investigate the effects of microwave, combined microwave/hot air treatment and hot air-only roasting on the formation of heat-induced contaminants of carob powders. Moisture content, water activity and pH values of the product decreased with the increasing roasting time and microwave power, while browning index (BI) and ultraviolet absorbance (UV-A) values were increased. While L and b values of carob powders decreased with increasing the roasting time and microwave power, a and ΔE values were increased. Varying roasting conditions also significantly affected the content of Maillard reaction products (MRPs): 5-hydroxymethylfurfural (HMF) (0.69–28.32 mg/kg dry matter), furfural (<LOD-10.44 mg/kg dm), furan (6.65–10.26 mg/kg dm) and acrylamide (78.69–122.87 µg/kg dm). MRPs contents increased with increasing the roasting time and microwave power. The highest MRPs were found in the samples roasted at 140°C for 20 min by hot air. Significant correlations between the amount of MRPs and colour values were found, especially with a and b values.
EXPLOITING INERTIAL SENSING IN MOSAICING AND VISUAL NAVIGATION

Abstract In vision systems used in robotics, inertial and earth field magnetic sensors can provide valuable data about the observer ego-motion, as well as an absolute orientation reference. This article exploits the inertial orientation measurements to compensate the rotational degrees of freedom, in two different domains. First, inertial data is used to project images on a leveled plane, relaxing the demands on interest point matching algorithms when performing image mosaicing. Second, in the rotation-compensated, pure translation case, full homographies are reduced to planar homologies, and the ratio of heights over the ground plane on two views are calculated more accurately. Both techniques are validated over outdoor image sequences including aerial images from an remotely piloted blimp.
Factors Associated with Conjunctival Erosions after Ahmed Glaucoma Valve Implantation

Purpose: To investigate the frequency of conjunctival erosions in a series of patients who underwent Ahmed valve implantation in a tertiary referral center and to study risk factors associated with the conjunctival erosions. Methods: This is a single-center, retrospective case-control study of all patients who underwent Ahmed valve implantation between October 2006 and July 2016 at the Kresge Eye Institute in Detroit, Michigan. The series consisted of 306 eyes (277 patients) that underwent Ahmed valve implantation. The rate of conjunctival erosions was determined. Univariate, bivariate, and Cox-proportional hazard analyses were performed to identify factors associated with conjunctival erosions. Results: During the study period, 23 erosions occurred in 306 eyes (7.52%). Aphakia was significantly more common in eyes with erosions (P < 0.05). Aphakia (P = 0.02), uveitic glaucoma (P = 0.03), and longer post-operative use of topical steroids (P < 0.04) significantly increased the risk of erosions based on the Cox model. There were similar rates of erosions with each type of patch graft. No conjunctival erosion was observed after using the modified scleral tunnel method (n = 10). Conclusions: The overall erosion rate was 7.52% in our series. Uveitic glaucoma, aphakia, and longer post-operative use of topical steroids were significantly associated with conjunctival erosions.
Animal Model - Investigation of Laser Speckle Flowgraphy for Early Carotid Artery Stenosis Detection

This study aims to develop a common carotid artery (CCA) stenosis animal model by ameroid constrictor (AC) implantation measured through ocular blood flow (OBF). The use of experimental animal model has open doors to great exploration. Existing atherosclerosis animal model provides a good platform, however, the implementation of higher order animal is important in order to be translatable scientifically for practical applications. This study was conducted on three rabbits. AC was implanted on right CCA $(\text{n}=3)$. Using laser speckle flowgraphy (LSFG), ocular blood flow in optic nerve head were measured over time for more than 60 days through mean blur rate (MBR), an important biomarker of OBF. Finding shows decreasing of MBR values in right eyes and increasing of MBR values in left eyes in all three rabbits. These results demonstrate LSFG as a platform for early carotid artery stenosis detection.
Eurasian river spring flood observations support net Arctic Ocean mercury export to the atmosphere and Atlantic Ocean

Significance Elevated levels of mercury in Arctic marine wildlife have been linked to midlatitude anthropogenic mercury emissions which are transported to the Arctic Ocean by air. Modeling studies, however, suggest that Arctic rivers contribute equal amounts of mercury to the Arctic Ocean. In this study, we provide comprehensive mercury data on large Eurasian rivers. We find that the spring flood mercury flux from Eurasian rivers is indeed large, which confirms a new Arctic mercury cycling paradigm: Mid-latitude anthropogenic emissions reach the terrestrial Arctic by air, whereby vegetation uptake transfers atmospheric mercury to tundra and boreal peat soils. Springtime snowmelt subsequently mobilizes peat soil mercury to the Arctic Ocean, where photochemistry drives net export of mercury back to the atmosphere. Midlatitude anthropogenic mercury (Hg) emissions and discharge reach the Arctic Ocean (AO) by atmospheric and oceanic transport. Recent studies suggest that Arctic river Hg inputs have been a potentially overlooked source of Hg to the AO. Observations on Hg in Eurasian rivers, which represent 80% of freshwater inputs to the AO, are quasi-inexistent, however, putting firm understanding of the Arctic Hg cycle on hold. Here, we present comprehensive seasonal observations on dissolved Hg (DHg) and particulate Hg (PHg) concentrations and fluxes for two large Eurasian rivers, the Yenisei and the Severnaya Dvina. We find large DHg and PHg fluxes during the spring flood, followed by a second pulse during the fall flood. We observe well-defined water vs. Hg runoff relationships for Eurasian and North American Hg fluxes to the AO and for Canadian Hg fluxes into the larger Hudson Bay area. Extrapolation to pan-Arctic rivers and watersheds gives a total Hg river flux to the AO of 44 ± 4 Mg per year (1σ), in agreement with the recent model-based estimates of 16 to 46 Mg per year and Hg/dissolved organic carbon (DOC) observation-based estimate of 50 Mg per year. The river Hg budget, together with recent observations on tundra Hg uptake and AO Hg dynamics, provide a consistent view of the Arctic Hg cycle in which continental ecosystems traffic anthropogenic Hg emissions to the AO via rivers, and the AO exports Hg to the atmosphere, to the Atlantic Ocean, and to AO marine sediments.
Social Media for Teaching and Learning within Higher Education Institution: A Bibliometric Analysis of the Literature (2008-2018)

Research on the topic of social media for teaching and learning in the higher education have received much attention from academia and practitioners. Social media technology was acknowledged not only as an important communication tool between faculty members and students but also shows great potential as the next social learning platform that better serves the teaching, learning and administration of a higher education institute. Its informal setting allows more flexibility for both students and faculty members to teach and learn anywhere and everywhere. Despite its important, little is known about how this research topic is evolving within the literature. Hence, using a bibliometric analysis technique this study examines the trends, topics, and challenges addressed by previous research for the past ten years (2008-2018). The paper ends by discussing future research directions related to this topic.