Miracle-dz/UniFAR-FTUs huggingface dataset:
Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy

Progress in epidemiological, molecular and clinical genetics with the development of new techniques has improved knowledge on genetic syndromes associated with autism spectrum disorder (ASD). The objective of this article is to show the diversity of genetic disorders associated with ASD (based on an extensive review of single-gene disorders, copy number variants, and other chromosomal disorders), and consequently to propose a hierarchical diagnostic strategy with a stepwise evaluation, helping general practitioners/pediatricians and child psychiatrists to collaborate with geneticists and neuropediatricians, in order to search for genetic disorders associated with ASD. The first step is a clinical investigation involving: (i) a child psychiatric and psychological evaluation confirming autism diagnosis from different observational sources and assessing autism severity; (ii) a neuropediatric evaluation examining neurological symptoms and developmental milestones; and (iii) a genetic evaluation searching for dysmorphic features and malformations. The second step involves laboratory and if necessary neuroimaging and EEG studies oriented by clinical results based on clinical genetic and neuropediatric examinations. The identification of genetic disorders associated with ASD has practical implications for diagnostic strategies, early detection or prevention of co-morbidity, specific treatment and follow up, and genetic counseling.
The impact of sampling and measurement on the prevalence of self-reported pain in Canada.

BACKGROUND Pain is an important public health problem in Canada. International estimates of general population pain prevalence range from 2% to 46%. OBJECTIVES The purpose of this paper is to critically examine the potentially misleading use of overall prevalence estimates in the pain literature and to use two Canadian population-based surveys to assess the impact of sampling and measurement on prevalence. METHODS Two of the secondary data sets used were the 1996/97 National Population and Health Survey (NPHS) and the Canadian Multicentre Osteoporosis Study (CaMos). This paper is based on the assessment of chronic pain in the NPHS, and the assessment of short term pain using the Medical Outcomes Trust's 36-item health survey and the Health Utilities Index, both collected by CaMos. Data are presented as frequencies and percentages overall and stratified by age and sex. CaMos prevalence estimates were age- and sex-standardized to the NPHS population. RESULTS The overall prevalence of pain was 39% for one-week pain, 66% for four-week pain and 15% for chronic pain. Women were more likely to report pain than men and the prevalence of pain increased with age. CONCLUSIONS This study yields useful information about the self-reported responses to a variety of questions assessing pain in the general population. Responses to the different questions likely represent different categories of pain, such as short term versus chronic pain, which in turn may have different epidemiological risk factors and profiles. Longitudinal studies of the epidemiology, predictors and natural history of chronic pain are urgently needed in the Canadian population.
Fast and Flexible Successive-Cancellation List Decoders for Polar Codes

Polar codes have gained significant amount of attention during the past few years and have been selected as a coding scheme for the next generation of mobile broadband standard. Among decoding schemes, successive-cancellation list (SCL) decoding provides a reasonable tradeoff between the error-correction performance and hardware implementation complexity when used to decode polar codes, at the cost of limited throughput. The simplified SCL (SSCL) and its extension SSCL-SPC increase the speed of decoding by removing redundant calculations when encountering particular information and frozen bit patterns (rate one and single parity check codes), while keeping the error-correction performance unaltered. In this paper, we improve SSCL and SSCL-SPC by proving that the list size imposes a specific number of path splitting required to decode rate one and single parity check codes. Thus, the number of splitting can be limited while guaranteeing exactly the same error-correction performance as if the paths were forked at each bit estimation. We call the new decoding algorithms Fast-SSCL and Fast-SSCL-SPC. Moreover, we show that the number of path forks in a practical application can be tuned to achieve desirable speed, while keeping the error-correction performance almost unchanged. Hardware architectures implementing both algorithms are then described and implemented: It is shown that our design can achieve $\mathbf {1.86}$ Gb/s throughput, higher than the best state-of-the-art decoders.
Backstepping Control for a Quadrotor Helicopter

This paper presents a nonlinear dynamic model for a quadrotor helicopter in a form suited for backstepping control design. Due to the under-actuated property of quadrotor helicopter, the controller can set the helicopter track three Cartesian positions (x,y,z) and the yaw angle to their desired values and stabilize the pitch and roll angles. The system has been presented into three interconnected subsystems. The first one representing the under-actuated subsystem, gives the dynamic relation of the horizontal positions (x,y) with the pitch and roll angles. The second fully-actuated subsystem gives the dynamics of the vertical position z and the yaw angle. The last subsystem gives the dynamics of the propeller forces. A backstepping control is presented to stabilize the whole system. The design methodology is based on the Lyapunov stability theory. Various simulations of the model show that the control law stabilizes a quadrotor with good tracking
Characterization of Five Zoonotic Streptococcus suis Strains from Germany, Including One Isolate from a Recent Fatal Case of Streptococcal Toxic Shock-Like Syndrome in a Hunter

ABSTRACT A Streptococcus suis isolate from a German hunter with streptococcal toxic shock-like syndrome (STSLS) and four additional zoonotic isolates were genotyped as mrp + epf* (variant 1890) sly + cps2 +. All five zoonotic German strains were characterized by high multiplication in human blood samples ex vivo, but induction of only low levels of proinflammatory cytokines compared to a Chinese STSLS strain.
Protective effect of Irvingia gabonensis stem bark extract on cadmium-induced nephrotoxicity in rats

ABSTRACT Cadmium has been considered a risk factor for humans as it accumulates in body tissues, such as the liver, lungs, kidneys, bones, and reproductive organs. The aim of the present study was to evaluate the effect of Irvingia gabonensis (IG) against cadmium (Cd)- induced nephrotoxicity. The study was performed on twenty (20) male rats divided into four groups: control group, cadmium group (4 mg/kg/day, intraperitoneally), cadmium + extract (200 mg/kg body weight by oral gavage) and cadmium + extract (400 mg/kg body weight by oral gavage). Changes in the kidney biochemical markers, namely glutathione (GSH), superoxide dismutase (SOD), catalase (CAT), aminotransferase (ALT), aspartate aminotransferase (AST) activities and levels of malondialdehyde (MDA), urea, and creatinine were determined in serum. Histological examinations were monitored. Exposure to Cd lowered the activities of kidney antioxidants, while it increased LPO levels. Levels of all disrupted parameters were alleviated by co-administration of IG extract. The malondialdehyde concentration of the rats treated with 200 and 400 mg/kg body weight of the extract significantly decreased (p<0.05) compared with the untreated cadmium rats. Yet the creatinine concentration decreased significantly (p<0.05) when the cadmium animals treated with 200 and 400 mg/kg body weight of the extract were compared with the cadmium control. Furthermore, histological alterations in the kidney were observed in cadmium untreated rats and these were ameliorated in cadmium treated rats by co-administration of IG extract. IG showed apparent protective and curative effect on Cd-induced nephrotoxicity
Toll-Like Receptor Transcriptome in the HPV-Positive Cervical Cancer Microenvironment

The human papillomavirus (HPV) directly infects cervical keratinocytes and interferes with TLR signalling. To shed light on the effect of HPV on upstream receptors, we evaluated TLRs 1–9 gene expression in HPV-negative normal and HPV-positive pre-malignant and malignant ex vivo cervical tissue. Quantitative real-time polymerase chain reaction was performed separately for epithelial and stromal tissue compartments. Differences in gene expression were analyzed by the Jonckheere-Terpstra trend test or the Student's t-test for pairwise comparison. Laser capture microdissection revealed an increase in TLR3 and a decrease in TLR1 mRNA levels in dysplastic and carcinoma epithelium, respectively. In the stroma, a trend of increasing TLR 1, 2, 5, 6, and 9 mRNA levels with disease severity was found. These findings implicate the involvement of TLR3 and TLR1 in early and late cervical carcinogenesis, respectively, suggesting that stromal upregulation of TLRs may play a role in cervical disease progression.
Amyloid precursor protein α‐ and β‐cleaved ectodomains exert opposing control of cholesterol homeostasis via SREBP2

Amyloid precursor protein (APP) is ubiquitously expressed. Studies in neuronal cells have implicated APP or its fragments as negative regulators of cholesterol metabolism. In the current study, APP acted, via its α‐cleavage, as a positive regulator of sterol regulatory element‐binding protein‐2 (SREBP2) signaling in human astrocytic cells (U251MG), hepatic cells (HepG2), and primary fibroblasts, leading to an approximate 30% increase in SRE‐dependent gene expression and, consequently, enhanced cholesterol biosynthesis and LDL receptor levels. This effect was mediated via the secretory ectodomain APPsα. The β‐cleaved ectodomain, in turn, repressed SRE‐dependent gene expression by up to ~30%. This resulted in decreased cholesterol synthesis and LDL receptor content, establishing a physiological feedback loop in cholesterol‐loaded cells, where APP undergoes preferential β‐cleavage. Patients with familial Alzheimer's disease had decreased circulating lathosterol, reflecting hepatic cholesterol synthesis, and their fibroblasts had reduced LDL receptor content, which was alleviated by decreasing β‐cleavage. These results show that APP regulates cholesterol metabolism in cells relevant for whole‐body cholesterol balance and reveal that APP α‐and β‐cleavages produce opposing paracrine regulators of SREBP2 signaling. —Wang, W. , Mutka, A. ‐L. , Zmrzljak, U. P., Tanila, D. R. H. , Gylling, H. , Remes, A. M. , Huttunen, H. J., Ikonen, E. Amyloid precursor protein α‐ and β‐cleaved ectodomains exert opposing control of cholesterol homeostasis via SREBP2. FASEB J. 28, 849–860 (2014). www.fasebj. org
Enteric Salmonella Infection Inhibits Paneth Cell Antimicrobial Peptide Expression

ABSTRACT Paneth cells, highly secretory epithelial cells found at the bases of small intestinal crypts, release a variety of microbicidal molecules, including α-defensins and lysozyme. The secretion of antimicrobials by Paneth cells is thought to be important in mucosal host defense against invasion by enteric pathogens. We explored whether enteric pathogens can interfere with this arm of defense. We found that oral inoculation of mice with wild-type Salmonella enterica serovar Typhimurium decreases the expression of α-defensins (called cryptdins in mice) and lysozyme. Oral inoculation with Salmonella serovar Typhimurium strains that are heat killed, lack the PhoP regulon, and lack the SPI1 type III secretion system or with Listeria monocytogenes does not have this effect. Salmonella may gain a specific survival advantage in the intestinal lumen by decreasing the expression of microbicidal peptides in Paneth cells through direct interactions between Salmonella and the small intestinal epithelium.
The percolation process on a tree where infinite clusters are frozen

Modify the usual percolation process on the infinite binary tree by forbidding infinite clusters to grow further. The ultimate configuration will consist of both infinite and finite clusters. We give a rigorous construction of a version of this process and show that one can do explicit calculations of various quantities, for instance the law of the time (if any) that the cluster containing a fixed edge becomes infinite. Surprisingly, the distribution of the shape of a cluster which becomes infinite at time t > ½ does not depend on t; it is always distributed as the incipient infinite percolation cluster on the tree. Similarly, a typical finite cluster at each time t > ½ has the distribution of a critical percolation cluster. This elaborates an observation of Stockmayer [12].
Lyα Line Formation in Starbursting Galaxies. I. Moderately Thick, Dustless, and Static H I Media

We investigate the Lyα line transfer in nearby and high-redshift starbursting galaxies, where the effects of high optical depths and the role of dust in the scattering medium are expected to be conspicuous and should be treated in a very careful manner. We present our first results in a dustless, static, and uniform H I media with moderate Lyα line center optical depths τ0 = 103-106. We assume the temperatures of the media to be T = 101-104 K, and use a Monte Carlo technique. We investigate the basic processes of the line transfer and confirm the criterion of aτ0 > 103 for the validity of the diffusion approximation suggested by Neufeld in 1990, where a is the Voigt parameter. Adopting the model for evolution of a galactic supershell suggested by Tenorio-Tagle et al. in 1999, we performed calculations on the Lyα line formation for each evolutionary stage of an expanding supershell. The emergent Lyα profiles are characterized by the double peaks and the absorption trough at the line center. We found that the absorption troughs expected in most of the evolutionary stages are not wide enough to be observed with current instruments. However, the absorption trough in the Lyα emission profile from an expanding recombining supershell can be marginally detected.
Games in the evolution of corporate social responsibility

This paper explores the evolution of corporate social responsibility by designing and analyzing games based on conditions close to the reality. Costs and benefits, which result in payoffs, are two most important determinants for rational firms' related decisions. In the gradual evolutionary process, external and internal factors, like the pressure from non-shareholding stakeholders and the profitability of slack resources, keep changing, interacting and thus significantly influencing the development of CSR. Though with some limitations resulted from the special analytical method, findings from the research points out new directions for further research.
Self-Reconfiguration of Embedded Systems Mapped on Spartan-3

This paper describes the architecture and design flow of a self-reconfigurable embedded system, mapped on Spartan-3 low-cost FPGA. The proposed design flow combines EDK and ISE software along with an ownmade tool, in order to create a self-reconfigurable system able to map a reconfigurable OPB coprocessor. A fixed area of the FPGA is reserved to accommodate a set of coprocessors whose execution is multiplexed on time, depending on which moment their utilisation is required. The Xilinx EDK tool permits designing embedded systems to be statically mapped on their FPGAs. System reconfigurability can be achieved using the PlanAhead-PR tools, however their use is restricted to advanced FPGAs, such as Virtex-4/5, not being supported on the Spartan-3 lower cost family. Moreover, Spartan-3 lacks of the ICAP (Internal Configuration Access Port) designed for self-reconfiguration and only available on higher cost Xilinx FPGAs. The paper also deals with other practical issues, such as OPB isolation during the self-reconfiguration, bit-stream retrieve from external memory, bit-stream processing for selfreconfiguration, and clock routing.
Optimal and robust control of invasive alien species spreading in homogeneous landscapes

Government agencies lack robust modelling tools to manage the spread of invasive alien species (IAS). In this paper, we combine optimal control and simulation methods with biological invasion spread theory to estimate the type of optimal policy and switching point of control efforts against a spreading IAS. We employ information-gap (info-gap) theory to assess how the optimal solutions differ from a policy that is most robustly immune to unacceptable outcomes. The model is applied to the potential invasion of the Colorado potato beetle in the UK. Under no uncertainty, we demonstrate that for many of the parameter combinations the optimal control policy corresponds to slowing down the invasion. The info-gap analysis shows that eradication policies identified as optimal under no uncertainty are robustly the best policies even under severe uncertainty, i.e. even if they are likely to turn into slowing down policies. We also show that the control of satellite colonies, if identified as optimal under no uncertainty, will also be a robust slowing down policy for IAS that can spread by long distance dispersal even for relatively ineffective control measures. The results suggest that agencies adopt management strategies that are robustly optimal, despite the severe uncertainties they face.
The Role of Sleep Disturbance in Suicidal and Nonsuicidal Self‐Injurious Behavior among Adolescents

The relationship between different sleep disturbances and self-harm thoughts and behaviors was examined among 223 adolescents presenting to a community clinic for mood disorders and suicidal and nonsuicidal self-injurious behaviors. Two-thirds of the adolescents reported nightly, severe sleep complaints. Relative to adolescents without significant sleep complaints, patients with severe sleep complaints at the time of clinic entry endorsed significantly more engagement in nonsuicidal self-injury. Middle insomnia and circadian reversal were both significant predictors of suicide attempts. Terminal insomnia was significantly associated with suicidal ideation. Results support the importance of assessing sleep difficulties among adolescents at risk for suicide.
Stereotactic Body Radiation Therapy for Low- to Intermediate-risk Prostate Adenocarcinoma

The aim of the present study was to evaluate the efficacy and toxicity of stereotactic body radiation therapy (SBRT) for low- to intermediate-risk prostate adenocarcinoma. Thirty-nine patients were retrospectively reviewed. The SBRT was delivered using the CyberKnife with the fiducial tracking method combined with In-tempo imaging. The gross target volume, which included the prostate only, was delineated on the fused CT/MRI scans. The prescription dose was delivered every other day as 5 fractions of 7.5 Gy. Venous blood was obtained before and after SBRT to assess the prostate-specific antigen (PSA) level. Toxicity was evaluated using the CTCAE, v4.03. The median follow-up time was 30.0 months. The median initial PSA level was 7.7 ng/mL. PSA levels decreased in all patients treated with SBRT, and after 5 months, the median PSA was less than 2 ng/mL. The rate of overall 3-yr actuarial biochemical failure free survival was 93.9%. Acute side effects were generally comparable with those of previous studies. The PSA change and toxicity after SBRT for low- to intermediate-risk prostate adenocarcinoma indicates favorable biochemical responses and tolerable levels of toxicity. Additionally short course treatment may produce cost benefit and convenience to patients.
Are Today's SDN Controllers Ready for Primetime?

SDN efficiency is driven by the ability of controllers to process small packets based on a global view of the network. The goal of such controllers is thus to treat new flows coming from hundreds of switches in a timely fashion. In this paper, we show this ideal remains impossible through the most extensive evaluation of SDN controllers. We evaluated five state-of-the-art SDN controllers and discovered that the most efficient one spends a fifth of his time in packet serialization. More dramatically, we show that this limitation is inherent to the object oriented design principle of these controllers. They all treat each single packet as an individual object, a limitation that induces an unaffordable per-packet overhead. To eliminate the responsibility of the hardware from our results, we ported these controllers on a network-efficient architecture, Tilera, and showed even worse performance. We thus argue for an in-depth rethinking of the design of the SDN controller into a lower level software that leverages both operating system optimizations and modern hardware features.
Specific structural alteration of the influenza haemagglutinin by amantadine.

Amantadine hydrochloride specifically blocks the release of virus particles from H7 influenza virus infected cells. This appears to be the direct consequence of an amantadine induced change in the haemagglutinin (HA) to its low pH conformation. The effect is indirect and mediated via interaction of the drug with the M2 protein since mutants altered in this component alone are insensitive to amantadine. The timing of drug action, some 15‐20 min after synthesis, and its coincidence with proteolytic cleavage indicates that the modifications to HA occur late during transport but prior to insertion into the plasma membrane. Reversal by mM concentrations of amines and 0.1 microM monensin indicates that amantadine action causes a reduction in intravesicular pH which triggers the conformational change in HA. We conclude, therefore, that the function of M2 inhibited by amantadine is involved in counteracting the acidity of vesicular compartments of the exocytic pathway in infected cells and is important in protecting the structural integrity of the acid‐sensitive glycoprotein.
Battery-aware dynamic voltage scaling in multiprocessor embedded system

In a battery powered system, a primary design consideration is the battery lifetime. The profile of current drawn from a battery determines its lifetime. Recently, dynamic voltage scaling has been applied to alter the battery load current profile in distributed systems to reduce battery charge consumption (Chowdhury, P. and Chakrabarti, C., IEEE Workshop on Sig. Process. Systems, SIPS '02, p.201-6, 2002). The load current profile is changed by utilizing the slack in the execution of scheduled tasks. We propose a new dynamic voltage scaling procedure that alters the load current profile by considering the total battery current instead of the method of Chowdhury and Chakrabarti that considers the current dawn by an individual task with the latest finish times in the schedule. The task schedule is partitioned into steps and the load currents during selected steps are targeted for reduction by scaling the supply voltage of the processing elements. Experimental results on a large set of task graphs show that battery charge consumption reductions of up to 89.80% are achieved by the new algorithm.