Miracle-dz/UniFAR-FTUs huggingface dataset:
Genetic advances in sarcomeric cardiomyopathies: state of the art

Genetic studies in the 1980s and 1990s led to landmark discoveries that sarcomere mutations cause both hypertrophic and dilated cardiomyopathies. Sarcomere mutations also likely play a role in more complex phenotypes and overlap cardiomyopathies with features of hypertrophy, dilation, diastolic abnormalities, and non-compaction. Identification of the genetic cause of these important conditions provides unique opportunities to interrogate and characterize disease pathogenesis and pathophysiology, starting from the molecular level and expanding from there. With such insights, there is potential for clinical translation that may transform management of patients and families with inherited cardiomyopathies. If key pathways for disease development can be identified, they could potentially serve as targets for novel disease-modifying or disease-preventing therapies. By utilizing gene-based diagnostic testing, we can identify at-risk individuals prior to the onset of clinical disease, allowing for disease-modifying therapy to be initiated early in life, at a time that such treatment may be most successful. In this section, we review the current application of genetics in clinical management, focusing on hypertrophic cardiomyopathy as a paradigm; discuss state-of-the-art genetic testing technology; review emerging knowledge of gene expression in sarcomeric cardiomyopathies; and discuss both the prospects, as well as the challenges, of bringing genetics to medicine.
A low-cost and fail-safe Inertial Navigation System for airplanes

A typical Inertial Navigation System (INS) fuses acceleration and angular rate readings with aiding measurements obtained by GPS and a compass. Here we present a robust state estimation framework based on the Extended Kalman Filter (EKF) applied to low-cost electronics typically installed on-board small unmanned airplanes. It uses airspeed measurements as a backup operation mode replacing GPS updates when temporarily unavailable. We demonstrate the applicability of the proposed approach to real-world scenarios using a challenging dataset recorded on-board a manned glider including long-term circling. A comparison between the normal operation mode and the backup solution reveals minimal difference between the respective orientation estimates, a position error growth sub-linear with time during GPS outage and a seamless transition back to GPS-based operation.
Progression of Brain Atrophy in Spinocerebellar Ataxia Type 2: A Longitudinal Tensor-Based Morphometry Study

Spinocerebellar ataxia type 2 (SCA2) is the second most frequent autosomal dominant inherited ataxia worldwide. We investigated the capability of magnetic resonance imaging (MRI) to track in vivo progression of brain atrophy in SCA2 by examining twice 10 SCA2 patients (mean interval 3.6 years) and 16 age- and gender-matched healthy controls (mean interval 3.3 years) on the same 1.5 T MRI scanner. We used T1-weighted images and tensor-based morphometry (TBM) to investigate volume changes and the Inherited Ataxia Clinical Rating Scale to assess the clinical deficit. With respect to controls, SCA2 patients showed significant higher atrophy rates in the midbrain, including substantia nigra, basis pontis, middle cerebellar peduncles and posterior medulla corresponding to the gracilis and cuneatus tracts and nuclei, cerebellar white matter (WM) and cortical gray matter (GM) in the inferior portions of the cerebellar hemisphers. No differences in WM or GM volume loss were observed in the supratentorial compartment. TBM findings did not correlate with modifications of the neurological deficit. In conclusion, MRI volumetry using TBM is capable of demonstrating the progression of pontocerebellar atrophy in SCA2, supporting a possible role of MRI as biomarker in future trials.
Examination of Auditor Acceptance of Dysfunctional Behavior Using a Heuristic Model

The current study has been designed and implemented with the goal of examining organizational characteristics using a heuristic model that helps distinguish auditors in terms of the acceptance of dysfunctional behaviors. This conceptual model is consisted of parameters including locus of control, acceptance of dysfunctional behavior, mandatory rotation, organizational commitment and auditor performance. Data were collected using Smith's standardized questionnaire, which was validated through the use of the factor analysis as well as the viewpoints of experts. The research was a descriptive correlational study whose data were analyzed using the structural equation model. The statistical population included all audit executives (senior auditors, audit supervisors and senior audit supervisors) with the audit firms of the official auditors associations of Tehran and Shiraz (including private audit firms as well as the Audit Organization). The sampling method was the simple random sampling which covered 620 auditors. Some 250 questionnaires were distributed finally. The collected date were primarily calculated with the SPSS software and analyzed by the confirmatory factor analysis to verify proper parameters and omit poor parameters. Also, the LISREL software was employed to find the optimal path through the variables.
Diagnosis of single and multi-agent plans

We discuss the application of Model Based Diagnosis in agent-based planning. We model a plan as a system to be diagnosed and assume that agents can monitor the execution of the plan by making partial observations during plan execution. These observations are used by the agents to explain plan deviations (errors) by qualifying some action instances as behaving abnormally. We prefer those qualifications that are maximum informative, i.e. explain as much as possible. Since in a plan several instances of the same action might occur, an error occurring in one instance might be used to predict the occurrence of the same error in an action instance to be executed later on. To account for such correlations, we introduce causal rules to generate diagnoses from action instances qualified as abnormally and we introduce Pareto minimal causal diagnoses as the right extension of classical minimal diagnoses.Next, we consider the multi-agent perspective where each agent is responsible for a part of the total plan, we show how plan-diagnoses of these partial plans are related to diagnoses of the total plan and how global diagnoses can be obtained in a distributed way.
SeDas : SELF-DESTRUCTION DATA SYSTEM FOR DISTRIBUTED OBJECT BASED ACTIVE STORAGE FRAMEWORK

Department of Computer Science and Engineering Faculty of Engineering, Karpagam University, Coimbatore, INDIA _________________________________________________________________________________________ Abstract: Today’s technical and legal landscape presents formidable challenges to personal data privacy. Personal data stored in the Cloud may contain account numbers, passwords, notes, and other important information that could be used and misused by a miscreant, a competitor, or a court of law. These data are cached, copied, and archived by Cloud Service Providers (CSPs), often without users’ authorization and control. In practical self-destructing data systems that secure sensitive data from disclosure in our highly mobile, social-networked, cloud-computing world. Self-destructing data mainly aims at protecting the user data’s privacy. All the data and their copies become destructed or unreadable after a user-specified time, without any user intervention. In addition, the decryption key is destructed after the user-specified time. In this paper, we present SeDas, a system that meets this challenge through a novel integration of Asymmetric Key techniques with active storage techniques based on T10 OSD standard. Compared to the system without selfdestructing data mechanism, throughput for uploading and downloading with the proposed SeDas acceptably decreases by less than 72%, while latency for upload/download operations with self-destructing data mechanism increases by less than 60%.
Beta-Cell Specific Deletion of Dicer1 Leads to Defective Insulin Secretion and Diabetes Mellitus

Mature microRNAs (miRNAs), derived through cleavage of pre-miRNAs by the Dicer1 enzyme, regulate protein expression in many cell-types including cells in the pancreatic islets of Langerhans. To investigate the importance of miRNAs in mouse insulin secreting β-cells, we have generated mice with a β-cells specific disruption of the Dicer1 gene using the Cre-lox system controlled by the rat insulin promoter (RIP). In contrast to their normoglycaemic control littermates (RIP-Cre+/− Dicer1 Δ/wt), RIP-Cre+/− Dicer1flox/flox mice (RIP-Cre Dicer1 Δ/Δ) developed progressive hyperglycaemia and full-blown diabetes mellitus in adulthood that recapitulated the natural history of the spontaneous disease in mice. Reduced insulin gene expression and concomitant reduced insulin secretion preceded the hyperglycaemic state and diabetes development. Immunohistochemical, flow cytometric and ultrastructural analyses revealed altered islet morphology, marked decreased β-cell mass, reduced numbers of granules within the β-cells and reduced granule docking in adult RIP-Cre Dicer1 Δ/Δ mice. β-cell specific Dicer1 deletion did not appear to disrupt fetal and neonatal β-cell development as 2-week old RIP-Cre Dicer1 Δ/Δ mice showed ultrastructurally normal β-cells and intact insulin secretion. In conclusion, we have demonstrated that a β-cell specific disruption of the miRNAs network, although allowing for apparently normal β-cell development, leads to progressive impairment of insulin secretion, glucose homeostasis and diabetes development.
In silico modeling and experimental evidence of coagulant protein interaction with precursors for nanoparticle functionalization

The design of novel protein–nanoparticle hybrid systems has applications in many fields of science ranging from biomedicine, catalysis, water treatment, etc. The main barrier in devising such tool is lack of adequate information or poor understanding of protein–ligand chemistry. Here, we establish a new strategy based on computational modeling for protein and precursor linkers that can decorate the nanoparticles. Moringa oleifera (MO2.1) seed protein that has coagulation and antimicrobial properties was used. Superparamagnetic nanoparticles (SPION) with precursor ligands were used for the protein–ligand interaction studies. The molecular docking studies reveal that there are two binding sites, one is located at the core binding site; tetraethoxysilane (TEOS) or 3-aminopropyl trimethoxysilane (APTES) binds to this site while the other one is located at the side chain residues where trisodium citrate (TSC) or Si60 binds to this site. The protein–ligand distance profile analysis explains the differences in functional activity of the decorated SPION. Experimentally, TSC-coated nanoparticles showed higher coagulation activity as compared to TEOS- and APTES-coated SPION. To our knowledge, this is the first report on in vitro experimental data, which endorses the computational modeling studies as a powerful tool to design novel precursors for functionalization of nanomaterials; and develop interface hybrid systems for various applications.
PIS: A Multi-Dimensional Routing Protocol for Socially-Aware Networking

Socially-aware networking is an emerging paradigm for intermittently connected networks consisting of mobile users with social relationships and characteristics. In this setting, humans are the main carriers of mobile devices. Hence, their connections, social features, and behaviors can be exploited to improve the performance of data forwarding protocols. In this paper, we first explore the impact of three social features, namely physical proximity, user interests, and social relationship on users' daily routines. Then, we propose a multi-dimensional routing protocol called Proximity-Interest-Social (PIS) protocol in which the three different social dimensions are integrated into a unified distance function in order to select optimal intermediate data carriers. PIS protocol utilizes a time slot management mechanism to discover users' movement similarities in different time periods during a day. We compare the performance of PIS to Epidemic, PROPHET, and SimBet routing protocols using SIGCOMM09 and INFOCOM06 data sets. The experiment results show that PIS outperforms other benchmark routing protocols with the highest data delivery ratio with a low communication overhead.
Ramsey model of barriers to growth and skill-biased income distribution in South Africa

The paper integrates two mechanisms of economic growth, barriers to international spillovers and skill-biased effects on the income distribution. South Africa is an interesting case study because of dramatic changes in international barriers over time and policy focus to productivity and distribution. Barriers affect the balance between innovation and adoption in the productivity growth and thereby the skill-bias. The productivity dynamics and the distributional implications are investigated in an intertemporal Ramsey growth model. The model offers a calibrated tariff-equivalence measure of the sanction effect and allows for counterfactual analysis of no-sanctions. Increased openness is shown to reduce barriers to technology adoption leading to skill-biased economic growth and worsened income distribution. The result is consistent with the observation that economic growth under sanctions has been slow and with an increase in the relative wage of unskilled labor. The tradeoff between barriers and skill-bias, foreign spillover driven productivity growth and income distribution, obviously is a challenge for growth policy.
Plasma leptin concentration in patients with acute renal failure.

BACKGROUND Acute renal failure (ARF) is characterized by impaired excretory, endocrine, homeostatic and metabolic function of the kidneys. It is well-known that leptin is an adipose-derived polypeptide hormone which is predominantly biodegraded by the kidneys. Therefore, plasma leptin concentration is increased in chronic renal failure (CRF). However, its' concentrations in patients with ARF were not investigated until now. The aim of the present study was to evaluate plasma leptin concentration in patients with ARF. PATIENTS AND METHODS 27 patients with ARF (age 44 +/- 4 years, BMI 26.0 +/- 0.9 kg/m2, means +/- SEM, 17 patients 15 M, 2 F recovered kidney function and 10 patients 7 M, 3 F died during the anuric phase), 27 hemodialysis patients (22 M, 5 F; age 45 +/- 2 years; BMI 26.2 +/- 0.8 kg/m2) with chronic renal failure (CRF) and 27 healthy subjects (HS) (22 M, 5 F; age 42 +/- 3 years; BMI 25.9 +/- 0.6 kg/m2) were examined. In patients with ARF, blood samples for plasma leptin and routinely assessed biochemical parameters were withdrawn before the first HD session (I), and in patients who survived a second time 5 days later during the anuric/oliguric phase (II), and a third one during the polyuric phase before discharge of the patient from hospital (III). In patients with CRF all examined parameters were estimated only once before a subsequent HD session. RESULTS Patients with ARF (before the first HD session) and CRF did not differ significantly with respect to BMI, serum creatinine and blood hydrogen ion concentrations. Plasma leptin level in patients with ARF before the first HD session was similar to values obtained in HS, but significantly lower (p < 0.01) than in patients with CRF (2.5 (1.9 - 8.2) vs. 3.4 (2.5 - 8.3) vs. 8.4 (2.9 - 16.9) ng/ml in ARF, HS and CRF, respectively). There was no significant difference in leptinemia between patients with ARF who survived and who died. In patients with ARF who survived, improvement ofrenal function was accompanied by a slightly (not significant) declining tendency in plasma leptin concentration (5.6 +/- 2.2 vs. 4.8 +/- 1.7 vs. 4.5 +/- 1.3 ng/ml; I, II, III phases of ARF, respectively). CONCLUSIONS In contrast to hemodialysis patients with chronic renal failure, patients with acute renal failure are characterized by normal plasma leptin concentration. Thus, difference in leptinemia between patients with chronic and acute renal failure seems to be due to preservation of large amounts of active renal parenchyma in ARF patients.
Rethinking computational thinking

letters to the editor of such disciplines? Would it avoid the dangers of the less computational savvy among us being led astray by well-intentioned fervor? What if Jeannette Wing would publish the steps she uses to identify, specify, design, and code, say, a phone or tablet app to display an album of photos and supporting text? Who would benefit most? Would it be only Microsoft employees or many more of us constructors and users out in the world? Would we even learn the skills of computational thinking? All practice and no theory? No, practice and theory. But practice first please, then theory. Teaching the Art of Delegation I commend Kate Matsudaira's wonderful article " Delegation as Art " (May 2016), with its spot-on guidance for addressing challenges in mentoring and delegating our co-workers and students; like Matsudaira, I love to imagine my teammates asking themselves , " What would Geoff say? " Mat-sudaira also did a superb job explaining her suggestions in ways that make them applicable to disciplines well beyond engineering. However, one key challenge in managing software engineers Matsu-daira did not address is that senior engineers are often expected to mentor team members while simultaneously being responsible for delivering the very projects on which the mentees are working. Matsudaira did say men-toring and delegation require letting people find their own way and make mistakes, even as project success is often measured by speed of delivery and perfection. As a result, mentoring success sometimes comes at the expense of project success, and vice versa. It would benefit us all if our managers and project managers had a better understanding of the value and process of mentoring. To this H OW IMPORTANT ARE skills in computational thinking for computing app constructors and for computing users in general? If we can teach our children early on to smile, talk, write, read, and count through frequent and repetitive use of patterns in well-chosen examples, is it also possible for us, assuming we have the skills, to teach our children to construct computing applications? Do we need to first teach them anything about computational thinking before we look to teach how to construct computing apps? If not, how important will computational skills be for us all, as Jeannette Wing suggests in her blog@cacm " Computational Thinking, 10 Years Later " (Mar. 2016 and reprinted on p. 10) and Viewpoint column " Computational Thinking …
Functional connectivity patterns during motor behaviour: The impact of past on present activity

Everyday behaviour often depends on the performance of multiple movements executed in a particular order. Here, the impact of task history on the neural activation patterns of motor behaviour is examined by evaluating unimanual and bimanual actions that are produced in a serial arrangement, such that switching between tasks is required. Cortical dynamics was assessed by means of EEG coherence in the β frequency band (13–30 Hz). Results showed that although behavioural performance was not affected, switching trials induced increased coherence as compared to control (repeat) trials. Thisreorganization was dependent on task history and was more pronounced for unimanual than for bimanual tasks. Overall, the data illustrate that neural processing of motor behaviour within a serial arrangement integrates past and present activity, and accordingly impacts on neural efficiency. Hum Brain Mapp, 2009. © 2007 Wiley‐Liss, Inc.
Tumor necrosis factor/cachectin increases permeability of endothelial cell monolayers by a mechanism involving regulatory G proteins

Endothelium is an important target of tumor necrosis factor/cachectin (TNF), a central mediator of the host response in endotoxemia and Gram- negative sepsis. In this report, TNF is shown to increase the permeability of endothelial cell monolayers to macromolecules and lower molecular weight solutes by a mechanism involving a pertussis toxin- sensitive regulatory G protein. Within 1-3 h of exposure to TNF (5 nM), changes in cell shape/cytoskeleton occurred that led to disruption of monolayer continuity with the formation of intercellular gaps. Correlated with these structural changes was an increase in endothelial permeability to macromolecular and lower molecular weight tracers; time- dependent, reversible increases in passage of these tracers, evident by 1-3 h, were observed after addition of TNF to cultures. Perturbation of barrier function by TNF also depended on the dose of TNF added being half-maximal by approximately 0.4 nM. Only a brief exposure (15 min) of TNF to endothelium was required to induce an increase in permeability, and this was not prevented by the presence of cycloheximide or actinomycin D. Preincubation of monolayers with pertussis toxin blocked in parallel TNF-induced increased passage of solutes and cell shape/cytoskeletal perturbation, indicating the close correlation between these changes in endothelial cell function. In contrast, pertussis toxin did not alter TNF-induced modulation of two endothelial cell coagulant properties. These data provide evidence for two intracellular pathways of TNF action that are distinguishable by pertussis toxin and provide insight into a mechanism underlying loss of solute from the intravascular space mediated by TNF: alteration in endothelial cell barrier function.
Menstrual hygiene management among Bangladeshi adolescent schoolgirls and risk factors affecting school absence: results from a cross-sectional survey

Background Many adolescent girls in low-income and middle-income countries lack appropriate facilities and support in school to manage menstruation. Little research has been conducted on how menstruation affects school absence. This study examines the association of menstrual hygiene management knowledge, facilities and practice with absence from school during menstruation among Bangladeshi schoolgirls. Methods We conducted a nationally representative, cross-sectional study in Bangladeshi schools from March to June 2013 among girls 11 to 17 years old who reached menarche. We sampled 700 schools from 50 urban and 50 rural clusters using a probability proportional to size technique. We interviewed 2332 schoolgirls and conducted spot checks in each school for menstrual hygiene facilities. To assess factors associated with reported school absence, we estimated adjusted prevalence difference (APD) for controlling confounders’ effect using generalised estimating equations to account for school-level clustering. Results Among schoolgirls who reached menarche, 41% (931) reported missing school, an average of 2.8 missed days per menstrual cycle. Students who felt uncomfortable at school during menstruation (99% vs 32%; APD=58%; CI 54 to 63) and who believed menstrual problems interfere with school performance (64% vs 30%; APD=27; CI 20 to 33) were more likely to miss school during menstruation than those who did not. School absence during menstruation was less common among girls attending schools with unlocked toilet for girls (35% vs 43%; APD=−5.4; CI −10 to –1.6). School absence was more common among girls who were forbidden from any activities during menstruation (41% vs 33%; APD=9.1; CI 3.3 to 14). Conclusion Risk factors for school absence included girl’s attitude, misconceptions about menstruation, insufficient and inadequate facilities at school, and family restriction. Enabling girls to manage menstruation at school by providing knowledge and management methods prior to menarche, privacy and a positive social environment around menstrual issues has the potential to benefit students by reducing school absence.