Miracle-dz/UniFAR-FTUs huggingface dataset:
An autopsy report of three kindred in a Gerstmann–Sträussler–Scheinker disease P105L family with a special reference to prion protein, tau, and beta‐amyloid

Gerstmann–Sträussler–Scheinker disease P105L (GSS105) is a rare variant of GSS caused by a point mutation of the prion protein (PrP) gene at codon 105 (proline to leucine substitution). It is clinically characterized by spastic paraparesis and dementia and histopathologically defined by PrP‐plaques in the brain. This report describes a clinicopathological analysis of three autopsied kindred from a Japanese GSS105 family, plus a topological analysis of PrP, hyperphosphorylated tau (p‐tau), and beta‐amyloid (Aβ).
The ABC of Software Engineering Research

A variety of research methods and techniques are available to SE researchers, and while several overviews exist, there is consistency neither in the research methods covered nor in the terminology used. Furthermore, research is sometimes critically reviewed for characteristics inherent to the methods. We adopt a taxonomy from the social sciences, termed here the ABC framework for SE research, which offers a holistic view of eight archetypal research strategies. ABC refers to the research goal that strives for generalizability over Actors (A) and precise measurement of their Behavior (B), in a realistic Context (C). The ABC framework uses two dimensions widely considered to be key in research design: the level of obtrusiveness of the research and the generalizability of research findings. We discuss metaphors for each strategy and their inherent limitations and potential strengths. We illustrate these research strategies in two key SE domains, global software engineering and requirements engineering, and apply the framework on a sample of 75 articles. Finally, we discuss six ways in which the framework can advance SE research.
A study on the relationship between exercise addiction, abnormal eating attitudes, anxiety and depression among athletes in Israel

Background and aims The aim of this study was to investigate the relationship between exercise addiction, abnormal eating attitudes, anxiety, and depression among competitive and amateur athletes. Methods Participants were 100 athletes of mean age 28.3 years (18–62), of which there were 67 males and 35 females. The sample consisted of competitive and amateur athletes who participated in individual and group sports. They filled in the Exercise Addiction Inventory, Body Shape Questionnaire, a questionnaire assessing Eating Attitudes Test, Spielberger State-Trait Anxiety Inventory, and Beck Depression Inventory (BDI). Results Ratings of exercise addiction were positively correlated with BDI scores across the study sample. Exercise addiction ratings were associated with abnormal eating attitudes, but not with trait or state anxiety. Athletes engaging in individual sports scored marginally higher on depression scores than group athletes but there was no difference in depression scores between competitive and amateur athletes. Multiple regression analysis revealed that abnormal eating attitudes contributed significantly to ratings of exercise addiction and explained 7.7% of the variance. According to the Sobel test, the difference in the association between exercise addiction and eating disorder was significant. Therefore, body shape was a mediating factor between eating disorder and exercise addiction. Discussion and conclusions This study extends our preliminary findings of an association between exercise addiction and depression. Second, abnormal eating attitudes may explain most of the variance of exercise addiction. This is a further support for previous evidence of comorbidity between exercise addiction and eating disorders.
Comparison of optical biometry versus ultrasound biometry in cases with borderline signal-to-noise ratio

Purpose To ascertain if optical biometry determination of axial length (AL) and intraocular lens (IOL) power is significantly different compared to ultrasound (US) biometry in cases with borderline signal-to-noise ratio (SNR). Patients and methods Sixty patients who had cataract and IOL Master biometry with borderline SNR (1.6–2.0) were included. A retrospective chart review was performed to compare data collected with optical biometry and US biometry in cataract cases with borderline SNR. Results Results showed that optical biometry IOL and AL measurements were not significantly different from the US measurements. Analysis also demonstrated good agreement between the two methods. Conclusion Our study suggests that, in cases of borderline quality data, IOL power and AL measurements with optical biometry are still useful in surgical planning and that additional US measurements may be used more as a corroborative tool.
Canavalia ensiformis‐derived lectin inhibits biofilm formation of enterohemorrhagic Escherichia coli and Listeria monocytogenes

A lectin Concanavalin A (ConA) derived from Canavalia ensiformis (jack bean) exhibits high‐binding affinity to carbohydrates on bacterial cell surfaces. The objective of this study was to inhibit the biofilm formation of the foodborne pathogens enterohemorrhagic Escherichia coli and Listeria monocytogenes using ConA prepared by a membrane‐based extraction method.
Risk of Down syndrome birth: Consanguineous marriage is associated with maternal meiosis‐II nondisjunction at younger age and without any detectable recombination error

Consanguineous marriage was examined as a risk factor for Down syndrome birth. We genotyped Down syndrome family trios using short tandem repeat markers on 21q‐to interpret the parental and meiotic stage of origin of errors as well as to record recombination profile along long arm of chromosome 21. We then compared nonconsanguineous (N = 811) group with‐the consanguineous (N =157) marriages. We report for the first time that consanguineous marriage is associated with an increased risk for nondisjunction of chromosome 21 in oocytes‐during the second meiotic division. We observed the absence of recombination more frequently in younger mothers in nonconsanguineous meiosis I cases. This was in contrast to an equal distribution of nonrecombinant cases across the age categories in the meiosis I consanguineous group. Moreover, the non‐consanguineous group exhibited preferential telomeric recombination in meiosis I error among younger women and centromeric recombination in meiosis II errors in older women. In contrast, the consanguineous group exhibited medially placed recombination events in both meiosis I and meiosis II nondisjunction errors. Additionally, we recorded reduced maternal age at conception in the‐consanguineous group. These findings suggest novel risk factors associated that increase the risk of chromosome 21 nondisjunction in the families with consanguinity.
Can WRKY transcription factors help plants to overcome environmental challenges?

Abstract WRKY transcription factors (TFs) are responsible for the regulation of genes responsive to many plant growth and developmental cues, as well as to biotic and abiotic stresses. The modulation of gene expression by WRKY proteins primarily occurs by DNA binding at specific cis-regulatory elements, the W-box elements, which are short sequences located in the promoter region of certain genes. In addition, their action can occur through interaction with other TFs and the cellular transcription machinery. The current genome sequences available reveal a relatively large number of WRKY genes, reaching hundreds of copies. Recently, functional genomics studies in model plants have enabled the identification of function and mechanism of action of several WRKY TFs in plants. This review addresses the more recent studies in plants regarding the function of WRKY TFs in both model and crop plants for coping with environmental challenges, including a wide variety of abiotic and biotic stresses.
Functional redundancy of frizzled 3 and frizzled 6 in planar cell polarity control of mouse hair follicles

ABSTRACT The orientation of mouse hair follicles is controlled by the planar cell polarity (PCP) pathway. Mutations in PCP genes result in two categories of hair mis-orientation phenotype: randomly oriented and vertically oriented to the skin surface. Here, we demonstrate that the randomly oriented hair phenotype observed in frizzled 6 (Fzd6) mutants results from a partial loss of the polarity, due to the functional redundancy of another closely related frizzled gene, Fzd3. Double knockout of Fzd3 and Fzd6 globally, or only in the skin, led to vertically oriented hair follicles and a total loss of anterior-posterior polarity. Furthermore, we provide evidence that, contrary to the prevailing model, asymmetrical localization of the Fzd6 protein is not observed in skin epithelial cells. Through transcriptome analyses and in vitro studies, we show collagen triple helix repeat containing 1 (Cthrc1) to be a potential downstream effector of Fzd6, but not of Fzd3. Cthrc1 binds directly to the extracellular domains of Fzd3 and Fzd6 to enhance the Wnt/PCP signaling. These results suggest that Fzd3 and Fzd6 play a redundant role in controlling the polarity of developing skin, but through non-identical mechanisms. Summary: The combined signaling intensity of Fzd3 and Fzd6 determines the orientation of hair follicles in developing mouse skin: tilted, randomly oriented or vertically oriented.
A Coupled Evolutionary Network for Age Estimation

Age estimation of unknown persons is a challenging pattern analysis task due to the lacking of training data and various aging mechanisms for different people. Label distribution learning-based methods usually make distribution assumptions to simplify age estimation. However, age label distributions are often complex and difficult to be modeled in a parameter way. Inspired by the biological evolutionary mechanism, we propose a Coupled Evolutionary Network (CEN) with two concurrent evolutionary processes: evolutionary label distribution learning and evolutionary slack regression. Evolutionary network learns and refines age label distributions in an iteratively learning way. Evolutionary label distribution learning adaptively learns and constantly refines the age label distributions without making strong assumptions on the distribution patterns. To further utilize the ordered and continuous information of age labels, we accordingly propose an evolutionary slack regression to convert the discrete age label regression into the continuous age interval regression. Experimental results on Morph, ChaLearn15 and MegaAge-Asian datasets show the superiority of our method.
Non-stick science: Sixty years of research and (in)action on fluorinated compounds

Understandings of environmental governance both assume and challenge the relationship between expert knowledge and corresponding action. We explore this interplay by examining the context of knowledge production pertaining to a contested class of chemicals. Per-and polyfluorinated alkyl substances (PFASs) are widely used industrial compounds containing chemical chains of carbon and fluorine that are persistent, bioaccumulative and toxic. Although industry and regulatory scientists have studied the exposure and toxicity concerns of these compounds for decades, and several contaminated communities have documented health concerns as a result of their high levels of exposure, PFAS use remains ubiquitous in a large range of consumer and industrial products. Despite this significant history of industry knowledge production documenting exposure and toxicity concerns, the regulatory approach to PFASs has been limited. This is largely due to a regulatory framework that privileges industry incentives for rapid market entry and trade secret protection over substantive public health protection, creating areas of unseen science, research that is conducted but never shared outside of institutional boundaries. In particular, the risks of PFASs have been both structurally hidden and unexamined by existing regulatory and industry practice. This reveals the uneven pathways that construct issues of social and scientific concern.
Optical coherence tomography angiography and microvascular changes in diabetic retinopathy: a systematic review

To use optical coherence tomography angiography (OCTA) to evaluate foveal microvascular changes in diabetes by comparing the area of foveal avascular zone (FAZ) in healthy controls and patients with diabetes with no diabetic retinopathy (NDR) as well as different stages of diabetic retinopathy (DR). A systematic literature search was performed based on the population, intervention, comparison and outcome (PICO) strategy by two independent reviewers. The search was performed in PubMed, Embase and Cochrane Library, including keywords ‘diabetes mellitus’, ‘DR’ and ‘OCTA’. Of 358 studies initially identified, 215 studies were screened after duplicate removal. Of these, we included 12 (nine cross‐sectional and three retrospective) studies in this review. With the data at hand, it was not possible to perform a meta‐analysis. The selected studies included patients with NDR (n = 8), non‐proliferative diabetic retinopathy (NPDR, n = 8) and proliferative diabetic retinopathy (PDR, n = 6). Several of the studies provided information for more than one diabetic group. In general, there was a trend towards a larger area of FAZ in patients with diabetes. As compared to healthy controls, this was reported in patients with NDR (five of eight studies), NPDR (seven of eight studies) and PDR (six of six studies). Optical coherence tomography angiography (OCTA) is non‐invasively able to identify foveal capillary non‐perfusion as an early event in DR. In some studies, this has even been identified in patients without clinically identifiable microvascular lesions. Longitudinal studies would be needed to examine if OCTA‐findings are able to predict long‐term structural and functional outcome.
Incidence of antibiogram, antibiotic resistance genes and class 1 and 2 integrons in tribe Proteeae with IMP27 gene for the first time in Providencia sp. isolated from pet turtles

Proteeae is a tribe which consists of three genera: Proteus, Providencia and Morganella. The objective of this study was to determine antimicrobial resistance profile, virulence genotype and class 1 and 2 integrons in Proteeae isolated from pet turtles and to determine the impact of antibiotic resistance on virulence and antimicrobial resistance genes. Integron‐positive isolates were used to detect their gene cassette array. Sixty four Proteeae were isolated and all were resistant to macrolides (100%). Among 64 isolates 56, 52, 36 and 25 were resistant to nitrofurans, β‐lactams, tetracycline and aminoglycoside respectively. Sixteen (25%) isolates were positive for intI1 while 14 (21·87%) were positive for integrase 2 (intI2). Eleven (17·18%) isolates were positive for class 1 variable region while 7 (10·93%) were positive for class 2 variable region. IMP27, a novel metallo β‐lactamase gene was found in Providencia isolates. Proteus sp. were positive for every tested virulence genes and UreC gene was detected in 48·44% followed by zapA (17·19%), mrpA (17·19%) and hlyA (14·06%) genes. In this study, integron associated‐antibiotic resistance genes have been identified in Proteeae isolates in a considerable range representing clear threats to public health.
Antinuclear antibodies in healthy people and non-rheumatic diseases – diagnostic and clinical implications

The presence of antinuclear antibodies (ANA) is mainly associated with connective tissue diseases (CTD). In addition, their presence is found in healthy people. These antibodies are more common in women and the elderly. Some drugs and xenobiotics are also important for the development of autoimmunity and ANA synthesis. Moreover, the deficiency of vitamin D in the body of patients correlates with occurrence of these antibodies. Unlike the healthy group, a positive ANA count was observed in patients with atopic dermatitis (AD) and in people with immune disorders. Antinuclear antibodies in low counts are also found in the course of chronic bacterial or viral infection and in patients with hematological malignancies. Also the possibility of false positive results, which may be caused by the choice of method used to determine antibodies, should be borne in mind. Taking into account all these factors, it is concluded that the ANA result itself has no diagnostic value.
Augmented Reality Interface Design Approaches for Goal-directed and Stimulus-driven Driving Tasks

The automotive industry is rapidly developing new in-vehicle technologies that can provide drivers with information to aid awareness and promote quicker response times. Particularly, vehicles with augmented reality (AR) graphics delivered via head-up displays (HUDs) are nearing mainstream commercial feasibility and will be widely implemented over the next decade. Though AR graphics have been shown to provide tangible benefits to drivers in scenarios like forward collision warnings and navigation, they also create many new perceptual and sensory issues for drivers. For some time now, designers have focused on increasing the realism and quality of virtual graphics delivered via HUDs, and recently have begun testing more advanced 3D HUD systems that deliver volumetric spatial information to drivers. However, the realization of volumetric graphics adds further complexity to the design and delivery of AR cues, and moreover, parameters in this new design space must be clearly and operationally defined and explored. In this work, we present two user studies that examine how driver performance and visual attention are affected when using fixed and animated AR HUD interface design approaches in driving scenarios that require top-down and bottom-up cognitive processing. Results demonstrate that animated design approaches can produce some driving gains (e.g., in goal-directed navigation tasks) but often come at the cost of response time and distance. Our discussion yields AR HUD design recommendations and challenges some of the existing assumptions of world-fixed conformal graphic approaches to design.
The correlation between microRNA-221/222 cluster overexpression and malignancy: an updated meta-analysis including 2693 patients

Background Although miR-221/222 cluster plays an important role in many human malignancies, the correlation between miR-221/222 cluster overexpression and tumor prognosis remains controversial. Therefore, an updated meta-analysis was conducted to clarify its prognostic value in malignancy. Methods We conducted a search of literature in English electronic databases of PubMed, Embase, and Cochrane Library, and Chinese electronic databases of China Biology Medicine disc and China National Knowledge Infrastructure to obtain appropriate studies. Besides, we extracted hazard ratios (HRs) and 95% CIs to evaluate the strength of the correlations. In addition, the results of different subgroups analyses and publication bias test were also shown in this article. Results 32 publications, including 15 tumor types and 2,693 patients were embraced in this meta-analysis. The results of univariate (HR =1.69, 95% CI: 1.18–2.44, P<0.01) and multivariate (HR =2.10, 95% CI: 1.63–2.69, P<0.01) analyses revealed that miR-221/222 cluster high expression in various tumors was significantly associated with adverse overall survival (OS). Correspondingly, we also found subgroups analyses consisted of country, miR-221/222 cluster component, sample size, and test method have similar results. Conclusion miR-221/222 cluster overexpression was closely related to adverse OS in human carcinoma, while overexpression of miRNA-221/222 cluster could be viewed as a protection factor in prostate cancer. Blood-derived miR-221/222 cluster was not proper to assess OS.
Association between Sarcopenia, Sarcopenic Obesity, and Chronic Disease in Korean Elderly

Background It is a very important social issue for Korea to have a healthy old age as an aged society. Aging causes a lot of physical changes, especially sarcopenia. Sarcopenia is defined as a persistent decrease in skeletal muscle and muscle strength. Sarcopenic obesity is a phenomenon in which fat is replaced instead of muscle. The purpose of this study was to examine the prevalence of sarcopenia and sarcopenic obesity in Korean elderly and to analyze the relationship with chronic disease. Methods Data from the 2008 to 2011 the Korea National Health and Nutrition Survey were used. A total of 3,492 patients were classified into 3 groups (non-sarcopenia, sarcopenia, sarcopenic obesity), and general, anthropometry, health behavior, nutrient intake and chronic disease status were compared by the statistical analysis. Results The rate of moderate exercise was significantly lower in the sarcopenia and sarcopenic-obesity group than in the non-sarcopenia group (P=0.007). The sarcopenic obesity group had significantly higher energy (P=0.005), protein (P=0.046) and fat (P=0.001) intake than the sarcopenic group. The sarcopenic-obesity group had the highest ratio of diabetes (P=0.023) and dyslipidemia (P=0.004) in the 3 groups. Compared with the non-sarcopenia group, in the sarcopenia and sarcopenic obesity groups, the odds ratios (ORs) of diabetes was increased by 1.24 and 2.16 while the ORs of dyslipidemia was increased by 1.12 and 1.50, respectively. Conclusions Regular exercise and adequate nutrient intake (energy, protein and fat) are essential for the prevention of sarcopenia in Korean elderly, and management of chronic disease in sarcopenic obesity elderly is important.
Maintenance Dose of Vitamin D: How Much Is Enough?

Background It is still unclear the ideal vitamin D dosage once the deficiency and insufficiency is treated. Once deficiency was corrected we prospectively treated patients with 2,000 IU of vitamin D3 to check whether this dosage is enough to keep them above the 30 ng/mL of 25-hydroxy-vitamin D (25[OH]D). Methods One hundred and thirty-five Saudi Arabian men and women treatment naïve for the vitamin D deficiency and insufficiency were part of this study. History and clinical examination were done to rule out any metabolic bone disease. Weight and height was taken to calculate the body mass index (BMI). Patients who were vitamin D deficient (≥30 ng/mL), a standard treatment of 50,000 IU of vitamin D3 weekly for 3 months, a blood test for the vitamin D levels at the end of 3 months, maintenance dose of 2,000 IU of vitamin D3 for 3 months and a third blood sample after 3 months. Results The data for 128 patients was available for analysis. The average age was 44.95±12.97 years with the mean BMI of 29.60±2.59 kg/m2. The baseline 25(OH)D level was 13.16±3.30 ng/mL. The increase in the level of 25(OH)D on 50,000 IU weekly was significant from 13.16±3.3 ng/mL to 36.97±4.67 ng/mL (P<0.001) and then 2,000 IU daily for next 3 months, the level of 25(OH)D dropped top 20.38±5.42 ng/mL (P<0.001). Conclusions Our study indicates that the maintenance dose of 2,000 IU of vitamin D is not enough for patients to keep the 25(OH)D levels above 30 ng/mL.