Miracle-dz/UniFAR-FTUs huggingface dataset:
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1

The proximal region of the long arm of chromosome 22 is rich in low copy repeats (LCR). Non‐allelic homologous recombination (NAHR) between these substrates explains the high prevalence of recurrent rearrangements within this region. We have performed array comparative genomic hybridization in a normally developing girl with growth delay, microcephaly, and truncus arteriosus, and have identified a novel recurrent 22q11 deletion that spans LCR22‐4 and partially affects the common 22q11.2 deletion syndrome and the distal 22q11 deletion syndrome. This deletion is atypical as it did not occur by NAHR between any of the major LCRs found on 22q11.2. However, the breakpoint containing regions coincide with highly homologous regions. An identical imbalance was reported previously in a patient with striking phenotypic similarity. Computational gene prioritization methods and biological evidence denote the genes CRKL and MAPK1 as the highest ranking candidates for causing congenital heart disease within the deleted region. © 2012 Wiley Periodicals, Inc.
Small Signal Stability Analysis of Power System with Increased Penetration of PV Generation

With the increase in the penetration of photo-voltaic (PV) generation in the power system it is utmost important to analyze the impact and issues of PV generation on the interconnected power system. As the output of PV is not constant its influence on the power system stability needs to be considered and it is evident from the grid codes of most of the countries. In this paper two different model of solar photovoltaic generation suitable for small signal stability analysis are presented and its behavior is investigated considering the IEEE 14-bus test system. The research review the impact of solar power on the interconnected power system with a high penetration of PV generation by the control of active and reactive power output. Based on constant reactive power and constant voltage magnitude models, the effect of voltage and angle stability of grid connected PV systems are studied and discussed. The eigenvalue analysis is carried out for the test system without any PV penetration and with different PV penetration levels and the results are compared using the power system analysis toolbox on MATLAB platform. The most influencing critical modes are identified and their behavior with increase in PV penetration is demonstrated.
Introducing DINGfest: An architecture for next generation SIEM systems

Isolated and easily protectable IT systems have developed into fragile and complex structures over the past years. These systems host manifold, flexible and highly connected applications, mainly in virtual environments. To ensure protection of those infrastructures, Security Incident and Event Management (SIEM) systems have been deployed. Such systems, however, suffer from many shortcomings such as lack of mechanisms for forensic readiness. In this extended abstract, we identify these shortcomings and propose an architecture which addresses them. It is developed within the DINGfest project, on which we report and for which we seek initial feedback from the community.
Students experiences of peer-support during a Master’s thesis process

Working as an expert in health care requires peer-support skills. The aim of the study is to describe students’ (n = 8) experiences of peer-support from other students during their Master’s thesis process. This study was a qualitative and the data (n = 29) was collected from the students through a number of repeated open questions during one year. The data were analysed by a qualitative content analysis. The results show that students both received and gave individual and mental peer-support during their Master’s thesis process. The results also show that students need to be active in peer-support group such as to share ideas, to discuss openly and to read peers thesis. The peer-support helped the students to formulate research plan and think more critically based on others students’ feedback. Peer-support received in a group can help increase opportunities for learning working life skills for Master’s thesis students, but further research is needed. More widely in health care, it is important to be aware of the existence of peer-support and discuss how it can be promoted.
Maintenance of cancer stemness by miR-196b-5p contributes to chemoresistance of colorectal cancer cells via activating STAT3 signaling pathway

Emerging studies indicated that cancer stem cells represent a subpopulation of cells within the tumor that is responsible for chemotherapeutic resistance. However, the underlying mechanism is still not clarified yet. Here we report that miR-196b-5p is dramatically upregulated in CRC tissues and high expression of miR-196b-5p correlates with poor survival in CRC patients. Moreover, recurrent gains (amplification) contribute to the miR-196b-5p overexpression in CRC tissues. Silencing miR-196b-5p suppresses spheroids formation ability, the fraction of SP cells, expression of stem cell factors and the mitochondrial potential, and enhances the apoptosis induced by 5-fluorouracil in CRC cells; while ectopic expression of miR-196b-5p yields an opposite effect. In addition, downregulation of miR-196b-5p resensitizes CRC cells to 5-fluorouracil in vivo. Our results further demonstrate that miR-196b-5p promotes stemness and chemoresistance of CRC cells to 5-fluorouracil via targeting negative regulators SOCS1 and SOCS3 of STAT3 signaling pathway, giving rise to activation of STAT3 signaling. Interestingly, miR-196b-5p is highly enriched in the serum exosomes of patients with CRC compared to the healthy control subjects. Thus, our results unravel a novel mechanism of miR-196b-5p implicating in the maintenance of stem cell property and chemotherapeutic resistance in CRC, offering a potential rational registry of anti-miR-196b-5p combining with conventional chemotherapy against CRC.
Megalencephalic leukoencephalopathy with subcortical cysts

Objective To provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features. Methods We performed an international multi-institutional, cross-sectional observational study of the clinical and MRI characteristics in patients with genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians and retrospective chart review. Results We included 204 patients with classic MLC, 187 of whom had recessive mutations in MLC1 (MLC1 variant) and 17 in GLIALCAM (MLC2A variant) and 38 patients with remitting MLC caused by dominant GLIALCAM mutations (MLC2B variant). We observed a relatively wide variability in neurologic disability among patients with classic MLC. No clinical differences could be identified between patients with MLC1 and MLC2A. Patients with MLC2B invariably had a milder phenotype with preservation of motor function, while intellectual disability and autism were relatively frequent. Systematic MRI review revealed no MRI features that distinguish between MLC1 and MLC2A. Radiologic improvement was observed in all patients with MLC2B and also in 2 patients with MLC1. In MRIs obtained in the early disease stage, absence of signal abnormalities of the posterior limb of the internal capsule and cerebellar white matter and presence of only rarefied subcortical white matter instead of true subcortical cysts were suggestive of MLC2B. Conclusion Clinical and MRI features did not distinguish between classic MLC with MLC1 or GLIALCAM mutations. Absence of signal abnormalities of the internal capsule and cerebellar white matter are MRI findings that point to the remitting phenotype.
Fraunhofer diffraction at the two-dimensional quadratically distorted (QD) Grating.

A two-dimensional (2D) mathematical model of quadratically distorted (QD) grating is established with the principles of Fraunhofer diffraction and Fourier optics. Discrete sampling and bisection algorithm are applied for finding numerical solution of the diffraction pattern of QD grating. This 2D mathematical model allows the precise design of QD grating and improves the optical performance of simultaneous multiplane imaging system.
The Aftermath of Disbanding an Online Hateful Community

Harassing and hateful speech in online spaces has become a common problem for platform maintainers and their users. The toxicity created by such content can discourage user participation and engagement. Therefore, it is crucial for and a common goal of platform managers to diminish hateful and harmful content. Over the last year, Reddit, a major online platform, enacted a policy of banning sub-communities (subreddits) that they deem harassing, with the goal of diminishing such activities. We studied the effects of banning the largest hateful subreddit (r/fatpeoplehate or FPH) on the users and other subreddits that were associated with it. We found that, while a number of outcomes were possible --- in this case the subreddit ban led to a sustained reduced interaction of its members (FPH users) with the Reddit platform. We also found that the many counter-actions taken by FPH users were short-lived and promptly neutralized by both Reddit administrators and the admins of individual subreddits. Our findings show that forum-banning can be an effective means by which to diminish objectionable content. Moreover, our detailed analysis of the post-banning behavior of FPH users highlights a number of the behavioral patterns that banning can create.
Identification of Biomarkers Associated With Pathological Stage and Prognosis of Clear Cell Renal Cell Carcinoma by Co-expression Network Analysis

Clear cell renal cell carcinoma (ccRCC) is the most common subtype among renal cancer whose prognostic is affected by the tumor progression associated with complex gene interactions. However, there is currently no available molecular markers associated with ccRCC progression and used or clinical application. In our study, microarray data of 101 ccRCC samples and 95 normal kidney samples were analyzed and 2,425 differentially expressed genes (DEGs) were screened. Weighted gene co-expression network analysis (WGCNA) was then conducted and 11 co-expressed gene modules were identified. Module preservation analysis revealed that two modules (red and black) were found to be most stable. In addition, Pearson's correlation analysis identified the module most relevant to pathological stage(patho-module) (r = 0.44, p = 3e-07). Functional enrichment analysis showed that biological processes of the patho-module focused on cell cycle and cell division related biological process and pathway. In addition, 29 network hub genes highly related to ccRCC progression were identified from the stage module. These 29 hub genes were subsequently validated using 2 other independent datasets including GSE53757 (n = 72) and TCGA (n = 530), and the results indicated that all hub genes were significantly positive correlated with the 4 stages of ccRCC progression. Kaplan-Meier survival curve showed that patients with higher expression of each hub gene had significantly lower overall survival rate and disease-free survival rate, indicating that all hub genes could act as prognosis and recurrence/progression biomarkers of ccRCC. In summary, we identified 29 molecular markers correlated with different pathological stages of ccRCC. They may have important clinical implications for improving risk stratification, therapeutic decision and prognosis prediction in ccRCC patients.
ORGANIZATIONAL CHANGE: AN ASSESSMENT OF TRUST AND CYNICISM

In the organizational science literature, organizational cynicism is generally considered to be conceptually distinct from organizational trust. This proposition, however, has not been adequately assessed. The present study attempts to distinguish these two constructs by utilizing organizational-level focused measures. Two surveys were administered about six months apart to members of a division that was undergoing change in a large federal agency. Data could be matched for 70 of the respondents on the two surveys. The results show that a measure of cynicism about change does not predict trust in coworkers or trust in work area managers, but does predict trust in division managers. These results do not conclusively demonstrate a distinction between the two constructs, however, they suggest that the constructs are related in a predictable manner. Finally, from the data obtained in this study of an organizational group undergoing change, it appears that trust of management is related to increased workgroup cohesion, and that trust is not due only to workforce cynicism. Instead, trust and cynicism may need to be addressed separately by management in order to most successfully implement change.
Modeling weight-loss maintenance to help prevent body weight regain.

BACKGROUND Lifestyle intervention can successfully induce weight loss in obese persons, at least temporarily. However, there currently is no way to quantitatively estimate the changes of diet or physical activity required to prevent weight regain. Such a tool would be helpful for goal-setting, because obese patients and their physicians could assess at the outset of an intervention whether long-term adherence to the calculated lifestyle change is realistic. OBJECTIVE We aimed to calculate the expected change of steady-state body weight arising from a given change in dietary energy intake and, conversely, to calculate the modification of energy intake required to maintain a particular body-weight change. DESIGN We developed a mathematical model using data from 8 longitudinal weight-loss studies representing 157 subjects with initial body weights ranging from 68 to 160 kg and stable weight losses between 7 and 54 kg. RESULTS Model calculations closely matched the change data (R(2) = 0.83, chi(2) = 2.1, P < 0.01 for weight changes; R(2) = 0.91, chi(2) = 0.87, P < 0.0004 for energy intake changes). Our model performed significantly better than the previous models for which chi(2) values were 10-fold those of our model. The model also accurately predicted the proportion of weight change resulting from the loss of body fat (R(2) = 0.90). CONCLUSIONS Our model provides realistic calculations of body-weight change and of the dietary modifications required for weight-loss maintenance. Because the model was implemented by using standard spreadsheet software, it can be widely used by physicians and weight-management professionals.
Reading on Smart Glasses: The Effect of Text Position, Presentation Type and Walking

Smart glasses are increasingly being used in professional contexts. Having key applications such as short messaging and newsreader, they enable continuous access to textual information. In particular, smart glasses allow reading while performing other activities as they do not occlude the user's world view. For efficient reading, it is necessary to understand how a text should be presented on them. We, therefore, conducted a study with 24 participants using a Microsoft HoloLens to investigate how to display text on smart glasses while walking and sitting. We compared text presentation in the top-right, center, and bottom-center positions with Rapid Serial Visual Presentation (RSVP) and line-by-line scrolling. We found that text displayed in the top-right of smart glasses increases subjective workload and reduces comprehension. RSVP yields higher comprehension while sitting. Conversely, reading with scrolling yields higher comprehension while walking. Insights from our study inform the design of reading interfaces for smart glasses.
An impedimetric comparison of cytotoxicity caused by cisplatin and doxycycline on osteosarcoma cell lines

The present paper describes a comparative characterization of cytotoxic effects of doxycycline and cisplatin on osteosarcoma cells by using impedance sensing techniques. The impedance sensing device was obtained from Applied Physics and the osteosarcoma cells were cultured on the electrodes of the purchased devices. The impedimetric cytotoxic natures of both the drugs on cells are investigated by using impedance analyzer at 10 mV in a frequency range of 100 Hz to 1 MHz. Impedance spectrum decreases drastically in drug treated samples above 10 μM dose as cell death and detachment from the electrode surfaces increases rapidly. However the cisplatin shows better results over doxycycline as observed from impedimetric as well as conventional results. The cisplatin treated sample shows lesser impedance than the doxycycline treated sample as the IC50 value of doxycycline is more than cisplatin on osteosarcoma cells.
Effects of nonprotein amino acids on survival and locomotion of Osmia bicornis

To investigate the effects of two nectar nonprotein amino acids, β‐alanine and γ‐aminobutyric acid (GABA), on Osmia bicornis survival and locomotion, two groups of caged bees were fed with sugar syrup enriched with β‐alanine and GABA, respectively. A further control group was fed with sugar syrup. Five behavioural categories were chosen according to the principle of parsimony and intrinsic unitary consistency from start to end, and recorded by scan sampling: two states (remaining under paper or in tubes) and three events (walking on net, feeding from flower and flying). We also analysed the amino acid content of haemolymph sampled from an additional 45 bees fed the same diets (15 per diet type). Bees fed with β‐alanine had a significantly shorter survival time than those fed with the control and GABA diets. The GABA diet induced higher levels of locomotion than β‐alanine. The former nonprotein amino acid was only detected in the haemolymph of bees fed GABA. The results suggest that insects consuming nonprotein amino‐acid‐rich diets absorb and transfer these substances to the haemolymph and that nonprotein amino acids affect survival and locomotion. Ecological consequences are discussed in the framework of plant reproductive biology.
Artificial Intelligence for Diabetes Management and Decision Support: Literature Review

Background Artificial intelligence methods in combination with the latest technologies, including medical devices, mobile computing, and sensor technologies, have the potential to enable the creation and delivery of better management services to deal with chronic diseases. One of the most lethal and prevalent chronic diseases is diabetes mellitus, which is characterized by dysfunction of glucose homeostasis. Objective The objective of this paper is to review recent efforts to use artificial intelligence techniques to assist in the management of diabetes, along with the associated challenges. Methods A review of the literature was conducted using PubMed and related bibliographic resources. Analyses of the literature from 2010 to 2018 yielded 1849 pertinent articles, of which we selected 141 for detailed review. Results We propose a functional taxonomy for diabetes management and artificial intelligence. Additionally, a detailed analysis of each subject category was performed using related key outcomes. This approach revealed that the experiments and studies reviewed yielded encouraging results. Conclusions We obtained evidence of an acceleration of research activity aimed at developing artificial intelligence-powered tools for prediction and prevention of complications associated with diabetes. Our results indicate that artificial intelligence methods are being progressively established as suitable for use in clinical daily practice, as well as for the self-management of diabetes. Consequently, these methods provide powerful tools for improving patients’ quality of life.
Induced gamma activity in EEG represents cognitive control during detecting emotional expressions

Cognitive control of emotion plays an important role in maintaining emotional stability in people's daily life. However, the neural mechanism remains unclear. This study examined the induced gamma activity in response to emotional expressions which was associated with the cognitive regulation. Electroencephalogram (EEG) was recorded in fifteen normal subjects when detecting emotional expressions. The mean energy was estimated using time-frequency representations in two gamma bands, low gamma band (25–50 Hz) and high gamma band (50–70 Hz), and eight time windows from 0 to 800 ms after the stimulus onset. Two typical gamma activities were observed: (1) the early gamma activity in the 100–200 ms time window was attenuated along with the increased detection difficulty, reflecting the bottom-up attention regulation; (2) the late gamma activity after 400 ms post-stimulus was enhanced with the increased detection difficulty, reflecting the top-down cognitive control. The characteristics of the induced early gamma activity distinguished different mechanisms of attention regulation in the early stage for detecting the negative expression and detecting the positive one. Our study suggested the induced gamma activity was a useful tool to uncover the mechanism of cognitive control of emotion.
Diagnoses of Depression and Anxiety Versus Current Symptoms and Quality of Life in Multiple Sclerosis.

Background Studies assessing the prevalence of depression and anxiety in multiple sclerosis (MS) have used various ascertainment methods that capture different constructs. The relationships between these methods are incompletely understood. Psychiatric comorbidity is associated with lower health-related quality of life (HRQOL) in MS, but the effects of past diagnoses of depression and anxiety on HRQOL are largely unknown. We compared the prevalence of depression and anxiety in persons with MS using administrative data, self-reported physician diagnoses, and symptom-based measures and compared characteristics of persons classified as depressed or anxious by each method. We evaluated whether HRQOL was most affected by previous diagnoses of depression or anxiety or by current symptoms. Methods We linked clinical and administrative data for 859 participants with MS. HRQOL was measured by the Health Utilities Index Mark 3. We classified participants as depressed or anxious using administrative data, self-reported physician diagnoses, and the Hospital Anxiety and Depression Scale. Multivariable linear regression examined whether diagnosed depression or anxiety affected HRQOL after accounting for current symptoms. Results Lifetime prevalence estimates for depression were approximately 30% regardless of methods used, but 35.8% with current depressive symptoms were not captured by either administrative data or self-reported diagnoses. Prevalence estimates of anxiety ranged from 11% to 19%, but 65.6% with current anxiety were not captured by either administrative data or self-reported diagnoses. Previous diagnoses did not decrease HRQOL after accounting for current symptoms. Conclusions Depression and, to a greater extent, anxiety remain underdiagnosed and undertreated in MS; both substantially contribute to reduced HRQOL in MS.