pinecone/core-2020-05-10-deduplication huggingface dataset:
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

International audienceSemaphorins are a large family of secreted and membrane-associated proteins necessary for wiring of the brain. Semaphorin 5A (SEMA5A) acts as a bifunctional guidance cue, exerting both attractive and inhibitory effects on developing axons. Previous studies have suggested that SEMA5A could be a susceptibility gene for autism spectrum disorders (ASDs). We first identified a de novo translocation t(5;22)(p15.3;q11.21) in a patient with ASD and intellectual disability (ID). At the translocation breakpoint on chromosome 5, we observed a 861-kb deletion encompassing the end of the SEMA5A gene. We delineated the breakpoint by NGS and observed that no gene was disrupted on chromosome 22. We then used Sanger sequencing to search for deleterious variants affecting SEMA5A in 142 patients with ASD. We also identified two independent heterozygous variants located in a conserved functional domain of the protein. Both variants were maternally inherited and predicted as deleterious. Our genetic screens identified the first case of a de novo SEMA5A microdeletion in a patient with ASD and ID. Although our study alone cannot formally associate SEMA5A with susceptibility to ASD, it provides additional evidence that Semaphorin dysfunction could lead to ASD and ID. Further studies on Semaphorins are warranted to better understand the role of this family of genes in susceptibility to neurodevelopmental disorders
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methadone/diazepam combination

International audienceBACKGROUND: Methadone may cause respiratory depression and fatalities. Concomitant use of benzodiazepines in methadone-treated patients for chronic pain or as maintenance therapy for opiate abuse is common. However, the exact contribution of benzodiazepines to methadone-induced respiratory toxicity remains debatable. METHODS: We investigated the respiratory effects of the combination diazepam (20mg/kg)/methadone (5mg/kg) in the rat, focusing on methadone concentration/effect relationships. Respiratory effects were studied using arterial blood gases and whole-body plethysmography. Plasma concentrations of both R- and S-methadone enantiomers were measured using high-performance liquid chiral chromatography coupled to mass spectrometry. To clarify mechanisms of diazepam/methadone interaction, methadone metabolism was investigated in vitro using rat liver microsomes. RESULTS: Diazepam/methadone co-administration significantly increased methadone-related effects on inspiratory time (p<0.001) but did not significantly alter the other respiratory parameters when compared with methadone alone, despite significant increase in the area under the curve of plasma R-methadone concentrations measured during 240min (p<0.05). Diazepam/methadone co-incubation with microsomes in vitro resulted in a significant inhibition of methadone metabolism (p<0.01), with 50%-inhibitory diazepam concentrations of 25.02±0.18μmol/L and 25.18±0.23μmol/L for R- and S-methadone, respectively. CONCLUSION: We concluded that co-administration of high-doses of diazepam and methadone in rats is not responsible for additional respiratory depression in comparison to methadone alone, despite significant metabolic interaction between the drugs. In humans, although our experimental data may suggest the relative safety of benzodiazepine/methadone co-prescription, physicians should remain cautious as other underlying conditions may enhance this drug-drug interaction
Why do liver transplant patients so often become obese? The addiction transfer hypothesis

International audienceIn patients who receive transplantation for alcohol liver disease, obesity and metabolic syndrome are highly prevalent after transplantation and both contribute to a significant proportion of cardiovascular complications, late morbidity and mortality in this population. Although immunosuppressive medications have been hypothesised to explain some of these post-liver-transplantation (LT) metabolic complications, they cannot be considered the sole cause of obesity and metabolic syndrome, and the high prevalence of these illnesses remains unexplained. Given the significant overlap between the neurobiological, psychiatric and psychological factors that underlie alcohol addiction and reward-related behavioural dyscontrol disorders such as food addiction (FA), we hypothesised that the high prevalence of obesity and metabolic syndrome reported in patients who receive transplantation for alcohol liver disease could be explained at least partially by a switch in some individuals from a previous alcohol addiction to post-transplantation FA (i.e., addiction transfer = addiction switch). In our integrative model, we also speculate that an increased prevalence of FA or alcohol addiction may occur in patients with both specific psychobiological profiles and shared risk factors. We further hypothesise that in the subpopulation of patients who develop either alcohol addiction or FA after LT, those with high insight with regard to the consequences of alcohol use could be at higher risk for FA, whereas those with low insight could be at higher risk for alcohol addiction. We discuss here evidence for and against this hypothesis and discuss which patients could be more vulnerable to these two addictions after LT. Because it will not be either possible or ethical to test some of our hypotheses in humans, future studies should test these hypotheses using a translational strategy, using both clinical and preclinical approaches. If our hypotheses could account for the significant increase in obesity and metabolic syndrome after LT, this would lead to new avenues for research and preventive as well as therapeutic interventions for alcohol-related LT patients. All patients with previous or current alcohol addiction should be systematically screened for FA and followed up for subsequent risk of obesity and metabolic syndrome. Such strategies might be effective in improving survival, outcomes and quality of life after LT and also in the overall population of patients with alcohol addiction. By determining common risk factors for both alcohol addiction and FA using a translational approach, our model could help to find novel psychopharmacological and psychological strategies that might be effective in both FA and alcohol addiction
Combining Vector Space Model and Multi Word Term Extraction for Semantic Query Refinement.

International audienceInthispaper,wetargetdocumentrankinginahighlytechni- cal field with the aim to approximate a ranking that is obtained through an existing ontology (knowledge structure). We test and combine sym- bolic and vector space models (VSM). Our symbolic approach relies on shallow NLP and on internal linguistic relations between Multi-Word Terms (MWTs). Documents are ranked based on different semantic rela- tions they share with the query terms, either directly or indirectly after clustering the MWTs using the identified lexico-semantic relations. The VSM approach consisted in ranking documents with different functions ranging from the classical tf.idf to more elaborate similarity functions. Results shows that the ranking obtained by the symbolic approach per- forms better on most queries than the vector space model. However, the ranking obtained by combining both approaches outperforms by a wide margin the results obtained by methods from each approach
Collaborative Pseudo-Haptics: Two-User Stiffness Discrimination Based on Visual Feedback

International audiencePseudo-Haptic feedback has been the object of several stud-ies exploring how haptic illusions can be generated when interacting with virtual environments using visual feedback. In this work we explore how the concept of pseudo-haptic feedback can be introduced in a collabora-tive scenario. A remote collaborative scenario in which two users interact with a deformable object is presented. Each user, through touch-based input, is able to interact with a deformable virtual object displayed in a standard display screen. The visual deformation of the virtual object is driven by a pseudo-haptic approach taking into account both the user in-put and the simulated physical properties. Particularly, we investigated stiffness perception. In order to validate our approach, we tested our system in a single and two-user configuration. The results showed that users were able to discriminate the stiffness of the virtual object in both conditions with a comparable performance. Thus, pseudo-haptic feed-back seems a promising tool for providing multiple users with physical information related to other users' interactions
HDS, a real-time multi-DSP motion estimator for MPEG-4 H.264 AVC high definition video encoding

International audienceH.264 AVC video compression standard achieves high compression rates at the cost of a high encoder complexity. The encoder performances are greatly linked to the motion estimation operation which requires high computation power and memory bandwidth. High definition context magnifies the difficulty of a real-time implementation. EPZS and HME are two well-known motion estimation algorithms. Both EPZS and HME are implemented in a DSP and their performances are compared in terms of both quality and complexity. Based on these results, a new algorithm called HDS for Hierarchical Diamond Search is proposed. HDS motion estimation is integrated in a AVC encoder to extract timings and resulting video qualities reached. A real-time DSP implementation of H.264 quarter-pixel accuracy motion estimation is proposed for SD and HD video format. Furthermore HDS characteristics make this algorithm well suited for H.264 SVC real-time encoding applications
Numerical study of two dimensional stochastic NLS equations

International audienceIn this paper, we numerically solve the two-dimensional stochastic nonlinear Shrödinger equation in the case of multiplicative and additive white noises. The aim is to investigate their influence on well-known deterministic solutions: stationary states and blowing-up solutions. In the first case, we find that a multiplicative noise has a damping effect very similar to diffusion. However, for small amplitudes of the noise, the structure of solitary state is still localized. In the second case, a local refinement algorithm is used to overcome the difficulty arising for the computation of singular solutions. Our expirements show that multiplicative white noise stops the deterministic blow-up which occurs in the critical case. This extends the results of [15] in the one-dimensional case
Hydrogen contribution to the thermal expansion of hydrided Zircaloy-4 cladding tubes

International audienceThis study is focused on the hydrogen-induced dimensional change or "growth" of zirconium alloys. Dilatometric experiments were performed on samples taken from a unirradiated Zircaloy-4 (Zy-4) fuel cladding loaded up to 940 wppm hydrogen. Samples were taken in the axial direction of the tube or at 45° to the axial and transverse directions. The results indicate that hydrogen-induced expansion is anisotropic. Theoretical expansion calculations were carried out considering the partition of hydrogen in solid solution and hydrides together with the material crystallographic texture. Hydride-induced expansion was calculated using two different assumptions reported in the literature, namely "Pure Lattice Transformation Strains" (PLTS) and "Pure Shear Transformation Strains" (PSTS). Calculations based on the PSTS hypothesis satisfactorily predicted the anisotropy observed in the dilatometric curve. Under this assumption, the contribution of hydrides to the axial growth of high-burnup Zy-4 cladding is limited to 12%. This study shows it is important to consider the respective contribution of hydrogen in both states, together with the material crystallographic texture, to understand the dilatometric behavior of hydrided zirconium alloys
Assessment of salivary amylase as a stress biomarker in pregnant patients.
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Salivary alpha-amylase: a stress biomarker in pregnant patients

International audienceBACKGROUND: Chronic stress during pregnancy has been associated with worsened maternal and fetal outcomes. Acute stress immediately before spinal anaesthesia for caesarean section may contribute to hypotension. Therefore objective measures of acute stress may help identify women at risk of adverse outcomes. Salivary alpha-amylase is a stress biomarker that has so far been poorly investigated during pregnancy. The reference change value is the difference between two sequential results that must be exceeded for a change to be considered clinically relevant. Our first aim was to determine if salivary alpha-amylase increased in pregnant patients when subjected to the stress of transfer to the operating room. Our second aim was to determine if changes in salivary alpha-amylase were likely to be clinically significant by measuring reference change value in healthy volunteers. METHODS: In 15 pregnant patients undergoing planned caesarean section under spinal anaesthesia, salivary alpha-amylase, systolic blood pressure, heart rate, and immediate anxiety were measured on the morning of surgery on the ward and again in the operating room. The reference change value was calculated from 18 healthy volunteers. RESULTS: A median 220% increase in salivary alpha-amylase activity (P=0.0015) and a 17% increase in systolic blood pressure (P=0.0006) were observed between the ward and operating room. No changes of immediate anxiety or heart rate were observed. Reference change value was ±76% in volunteers and 13 of the 15 pregnant patients had a salivary alpha-amylase increase greater than the reference change value. CONCLUSION: When pregnant women are taken to the operating room, a clinically and statistically significant increase in salivary alpha-amylase was observed. Further studies are required to define its clinical usefulness
Contribution of calcium-conducting channels to the transport of zinc ions.

International audienceZinc (Zn) is a vital nutrient participating in a myriad of biological processes. The mechanisms controlling its transport through the plasma membrane are far from being completely understood. Two families of eukaryotic zinc transporters are known to date: the Zip (SLC39) and ZnT (SLC30) proteins. In addition, some types of plasmalemmal calcium (Ca)-conducting channels are implied in the cellular uptake of zinc. These ion channels are currently described as systems dedicated to the transport of Ca (and, to some extent, sodium (Na) ions). However, a growing body of evidence supports the view that some of them can also function as pathways for Zn transport. For instance, voltage-gated Ca channels and some types of glutamate-gated receptors have long been known to allow the entry of Zn. More recently, members of the TRP superfamily, another type of Ca-conducting channels, have been shown to permit the uptake of Zn into eukaryotic cells. The aim of this review article is to present the current knowledge supporting the notion that Ca-conducting channels take part in the plasmalemmal transport of Zn
Multi-View Vision System for Laparoscopy Surgery.

International audienceThis paper deals with the development of a new generation of augmented laparoscopy system. We propose to equip a traditional endoscope, or a robotic endoscope holder, with a miniature stereovision device. The system includes two miniature high resolution CMOS cameras mounted around the endoscope as a pair of glasses that provides a global view of the abdominal cavity completing the traditional view. Each camera can reach a frame rate of 30 images/second with a resolution of 1600 _ 1200 pixels. A deployment, fixation and rapid extraction system of the proposed device through the trocar was designed and validated through preclinical experiments (testbench and human cadaver). The main benefit of the proposed system in the minimally invasive surgery domain is to provide simultaneously local/global views, and with perspectives in 3D reconstruction of the organ being treated
Symptoms of anxiety and depression and risk of acute myocardial infarction: the HUNT 2 study

Aims The nature of the association of depression and anxiety with risk for acute myocardial infarction (AMI) remains unclear. We aimed to study the prospective association of single and recurrent self-reported symptoms of anxiety and depression with a risk of AMI in a large Norwegian population based cohort.


Methods and results In the second wave of the Nord-Trøndelag Health Study (HUNT2, 1995–97) baseline data on anxiety and depression symptoms, sociodemographic variables, health status including cardiovascular risk factors and common chronic disorders were registered for 57 953 adult men and women free of cardiovascular disease. The cohort was followed up during a mean (SD) 11.4 (2.9) years for a first AMI from baseline through 2008. A total of 2111 incident AMIs occurred, either identified at hospitals or by the National Cause of Death Registry. The multi-adjusted hazard ratios were 1.31 (95% CI 1.03–1.66) for symptoms of depression and 1.25 (CI 0.99–1.57) for anxiety. Two episodes of mixed symptoms of anxiety and depression (MSAD), reported 10 years apart, increased the risk for AMI by 52% (11–108%). After exclusion of the first 5 years of follow-up, the association of depression symptoms with AMI risk was attenuated. Relative risk for AMI with anxiety symptoms and MSAD weakened when participants with chronic disorders were excluded.


Conclusion Self-reported symptoms of depression and anxiety, especially if recurrent, were moderately associated with the risk of incident AMI. We had some indications that these associations might partly reflect reverse causation or confounding from common chronic diseases.& The Author 2013. Published by Oxford University Press on behalf of the European Society of Cardiology. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.co
Cationic zinc (II) dimers and one dimensional coordination polymer from ionic carboxylic acid

A rare example of chelating two tetra cationic paddle-wheel zinc dimers were synthesized from the reaction between flexible imidazolium carboxylate (L H 2 B r 2 ) and corresponding zinc precursors. A zinc coordination polymer was synthesised by treating in situ generation of 2 in the presence of 4,4'-bipyridine. These new molecules, dimers and polymer, were characterized by FT-IR, NMR, UV-vis, fluorescent and single crystal X-ray diffraction techniques. Zinc polymer is the first example of 1D coordination polymer constructed by tetra cationic zinc dimer as a secondary building unit in coordination polymer
Causes-of-death analysis of patients with cardiac resynchronization therapy: an analysis of the CeRtiTuDe cohort study

International audienceAIMS: The choice of resynchronization therapy between with (CRT-D) and without (CRT-P) a defibrillator remains a contentious issue. Cause-of-death analysis among CRT-P, compared with CRT-D, patients could help evaluate the extent to which CRT-P patients would have additionally benefited from a defibrillator in a daily clinical practice. METHODS AND RESULTS: A total of 1705 consecutive patients implanted with a CRT (CRT-P: 535 and CRT-D: 1170) between 2008 and 2010 were enrolled in CeRtiTuDe, a multicentric prospective follow-up cohort study, with specific adjudication for causes of death at 2 years. Patients with CRT-P compared with CRT-D were older (P \textless 0.0001), less often male (P \textless 0.0001), more symptomatic (P = 0.0005), with less coronary artery disease (P = 0.003), wider QRS (P = 0.002), more atrial fibrillation (P \textless 0.0001), and more co-morbidities (P = 0.04). At 2-year follow-up, the annual overall mortality rate was 83.80 [95% confidence interval (CI) 73.41-94.19] per 1000 person-years. The crude mortality rate among CRT-P patients was double compared with CRT-D (relative risk 2.01, 95% CI 1.56-2.58). In a Cox proportional hazards regression analysis, CRT-P remained associated with increased mortality (hazard ratio 1.54, 95% CI 1.07-2.21, P = 0.0209), although other potential confounders may persist. By cause-of-death analysis, 95% of the excess mortality among CRT-P subjects was related to an increase in non-sudden death. CONCLUSION: When compared with CRT-D patients, excess mortality in CRT-P recipients was mainly due to non-sudden death. Our findings suggest that CRT-P patients, as currently selected in routine clinical practice, would not potentially benefit with the addition of a defibrillato
Adsorption at cell surface and cellular uptake of silica nanoparticles with different surface chemical functionalizations: impact on cytotoxicity

International audienceSilica nanoparticles are particularly interesting for medical applications because of the high inertness and chemical stability of silica material. However, at the nanoscale their innocuousness must be carefully verified before clinical use. The aim of this study was to investigate the in vitro biological toxicity of silica nanoparticles depending on their surface chemical functionalization. To that purpose, three kinds of 50 nm fluorescent silica-based nanoparticles were synthesized: 1) sterically stabilized silica nanoparticles coated with neutral polyethylene glycol (PEG) molecules, 2) positively charged silica nanoparticles coated with amine groups and 3) negatively charged silica nanoparticles coated with carboxylic acid groups. RAW 264.7 murine macrophages were incubated for 20 hours with each kind of nanoparticles. Their cellular uptake and adsorption at the cell membrane were assessed by a fluorimetric assay and cellular responses were evaluated in terms of cytotoxicity, pro-inflammatory factor production and oxidative stress. Results showed that the highly positive charged nanoparticle, were the most adsorbed at cell surface and triggered more cytotoxicity than other nanoparticles types. To conclude, this study clearly demonstrated that silica nanoparticles surface functionalization represents a key parameter in their cellular uptake and biological toxicity
Incremental Junction Tree Inference

International audiencePerforming probabilistic inference in multi-target dynamic systems is a challenging task. When the system, its evidence and/or its targets evolve, most of the inference algorithms either recompute everything from scratch, even though incremental changes do not invalidate all the previous computations, or do not fully exploit incrementality to minimize computations. This incurs strong unnecessary overheads when the system under study is large. To alleviate this problem, we propose in this paper a new junction tree-based message-passing inference algorithm that, given a new query, minimizes computations by identifying precisely the set of messages that differ from the preceding computations. Experimental results highlight the efficiency of our approach