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Le diabète de type 1 (DT1) commence par deux stades précliniques bien caractérisés : stade 1, avec une auto-immunité sans retentissement sur l’insulinosécrétion (code diagnostique ICD-10 : E10.A1) ; et stade 2, avec une auto-immunité et des altérations débutantes de l’insulinosécrétion (code diagnostique ICD-10 : E10.A2). Ce continuum se poursuit par un stade 3 clinique, correspondant à la prise en charge actuelle. La possibilité de dépister le DT1 aux stades précliniques par un dosage des auto-anticorps permet désormais une prise en charge anticipée, notamment chez les apparentés des personnes vivant avec un DT1 (PaDT1) qui présentent un risque génétique supérieur à celui de la population générale. Dépister permet d’ores et déjà de prévenir l’acidocétose inaugurale, les hospitalisations prolongées, la dégradation rapide de l’insulinosécrétion résiduelle responsable d’instabilité glycémique et d’un risque supérieur de complications à long terme. De plus, une prise en charge précoce peut permettre d’anticiper les difficultés d’adaptation à la maladie et de corriger les facteurs de risque modifiables (obésité, sédentarité). De nouveaux traitements en cours d’essai ou de déploiement clinique offrent également la possibilité de retarder la progression vers le stade 3 clinique. L’ensemble de ces arguments plaide pour proposer dès à présent un parcours de dépistage et prise en charge au niveau national pour les apparentés de PaDT1. Ce parcours représente pour les professionnels de santé en charge des PaDT1 un nouveau champ de compétences à acquérir. En adaptant les recommandations internationales aux spécificités françaises, cette prise de position a pour objectif de décrire les étapes du parcours de dépistage et de prise en charge dans le cadre des soins courants.

The utilization of iron powder as a sustainable energy carrier, conducive to a carbon-free future, has garnered substantial attention due to its commendable attributes such as high energy density, widespread availability, and absence of emissions. To harness its potential optimally, a comprehensive understanding of the combustion behavior of iron powder and the development of corresponding combustion technologies are imperative. This study endeavors to investigate the influence of iron powder particle size, as well as the flow rate of air and iron powder, on the temperature at the exit of the ignition chamber. Experimental trials were conducted utilizing a metal cyclonic combustor (MC2) equipped with a system for feeding iron powder. The findings reveal that an increase in the diameter of iron particles corresponds to an elongation of the path from the ignition chamber to the outlet. Consequently, this elongation induces prolonged ignition delay time and burning duration. Notably, larger particles exhibit enhanced combustion efficiency in comparison to their smaller counterparts. The outcomes demonstrate that particles approximately 50 µm in size achieve an efficiency of 94%, as opposed to 72% for particles below 20 µm. Temperature measurements and spectrometric analysis expose a discernible relationship between particle size and temperature during combustion, elucidating that larger particles yield higher temperatures. Comprehending the intricate correlation between particle size and combustion behavior is crucial for optimizing combustion systems when utilizing iron powder as an energy carrier. By controlling particle size and combustion conditions, the efficiency and efficacy of iron powder combustion processes can be enhanced, thereby contributing to cleaner and more sustainable energy solutions. The implications of this study extend to the enhancement of burner system design and functionality, along with an overall improvement in combustion efficiency. These findings hold significance within the realm of combustion science, presenting opportunities for the development of more sustainable and environmentally friendly energy solutions. Implementing the insights derived from this research empowers researchers to harness the potential of iron powder as an energy carrier, thereby advancing progress toward a greener future through environmentally conscious combustion processes.

The fundamental and universal nature of life’s exploitation of peptides suggests they must have played a vital role during the onset of life, but their spontaneous chemoselective synthesis in water remains unknown. Aminonitriles (1) are widely accepted as prebiotic precursors of both amino acids and peptides, but they do not spontaneously polymerize in water to yield peptides. Here, we demonstrate that the simple prebiotically plausible aminothiol, cysteamine (5), participates in Strecker chemistry to furnish β-mercaptoethyl-α-aminonitriles (8) and β-mercaptoethyl-amino acids (16), which are predisposed to spontaneously form peptides in water. Intramolecular thiol catalyzed ligation is faster, higher-yielding, and more α-selective than previously reported prebiotic peptide ligation chemistries, enabling, for example, the highly regioselective α-ligation of Asp- and Glu-dinitriles in quantitative yields. Our findings suggest that cysteamine (5), the thiol bearing moiety of the universal thiol cofactor coenzyme A, may have played an important role in the selective chemical synthesis of prebiotic α-peptides.

With the growing awareness about the importance of commitment for sustainable development requirements, the focus on the technologies for clean and environmentally friendly fuel production has significantly increased. Deep eutectic solvents (DESs) are a new class of ionic liquid (IL). They are inexpensive, non-toxic and environmentally friendly and their various industrial applications have received much attention in recent years. Some of the DESs are composed of a mixture of different proportions of halide salts and a hydrogen bonding organic material and can be utilized in biodiesel production and purification processes. The present research focuses on using DESs as catalysts and co-solvents, as well as extracting agent in the biodiesel production and purification processes. The DESs could potentially direct future research on an industrial scale.

ABSTRACTInclusion, Diversity, Equity, & Access (IDEA) spurs creativity, encourages ideas from people who have been historically ignored, and promotes an invigorating learning environment. Despite such benefits, we do precious little when it comes to practicing the same in our classrooms. Regrettably, our infrastructure and education system does not always provide enough opportunities for the younger generation to appreciate, understand and experience the significance of an inclusive society, preventing our students an opportunity to apply what they learn in the classroom for the betterment of marginalized and minoritized communities. Against such a backdrop, the author focuses on how faculty can enhance the classroom-level student-experience through a model that helps students’ understanding and appreciation of IDEA. The author believes that this research model not only plugs a significant gap in our attitude towards IDEA practice and implementation but will also spur educators and practitioners to consider adopting similar measures while designing their respective curricula.

Fusion welding in aluminium alloys had always remained an issue for aero- and auto industries. An Al–3Mg–0.25Sc alloy is classified as weldable aluminium alloys. In this study, two welding techniques, keyhole and conduction welding, have been used for joining Al–3Mg–0.25Sc sheets of thickness 1.6 mm. Experiments were carried out using different beam diameter (0.16–2 mm dia), beam power (2–4.5 kW) and laser head speed (ranging from 0.5 to 6 m/min). The results for all autogenous keyhole welding clearly demonstrated a drop in ductility (< 0.8%) compared to base metal for all beam power and welding speed combinations although the yield strength was reasonably good (175–180 MPa, i.e. > 50% of base metal). Residual stress-induced distortions affected the final shape of the product, and for that, a suitable stress relief annealing was also required. Hereby, we chose two heat treatment schedules: (1) solution treatment and annealing and (2) retrogression and re-ageing. Retrogression and re-ageing is a precipitation-controlled phenomenon and comprises of an intermediate annealing step between tempering and solutionizing temperature to dissolve the nano-clusters present in the matrix (retrogression) and re-precipitating and growing them by ageing (re-ageing). These two steps were repeated cyclically, and as a result, the strength (190 MPa) and ductility (~ 9%) of the material were improved substantially. The improvement of ductility and strength was explained in detail in the light of microstructural studies.

In this letter, we consider the problem of finding an optimal energy management policy for a network of sensor nodes capable of harvesting their own energy and sharing it with other nodes in the network. We formulate this problem in the discounted cost Markov decision process framework and obtain good energy-sharing policies using the Deep Deterministic Policy Gradient (DDPG) algorithm. Earlier works have attempted to obtain the optimal energy allocation policy for a single sensor and for multiple sensors arranged on a mote with a single centralized energy buffer. Our algorithms, on the other hand, provide optimal policies for a distributed network of sensors individually harvesting energy and capable of sharing energy amongst themselves. Through simulations, we illustrate that the policies obtained by our DDPG algorithm using this enhanced network model outperform algorithms that do not share energy or use a centralized energy buffer in the distributed multi-nodal case.

Background: Despite ample evidence of high depression rates among women with high-risk pregnancies, there is limited information available regarding the effectiveness of Internet-based psychotherapies in this population. This study aimed to assess the effectiveness of internet-based psychotherapy in treating depression and anxiety in pregnant women with high-risk pregnancies admitted to the hospital. Methods: In a quasi-experimental study, 60 inpatient women with high-risk pregnancies exhibiting mild to moderate depression were allocated to either the experimental (n= 30) or control (n= 30) group. The experimental group received medical therapy with Internet-based Synchronous Individualized Therapy for six sessions, each lasting 50–60 min, conducted over six weeks. The control group solely received medical therapy. All participants completed questionnaires, including the Brief Symptom Inventory (BSI-18) and Edinburgh Postnatal Depression Scale, at both baseline and the post-trial stage (6 weeks after the study commencement). Results: The mean scores for depression and anxiety in both groups were elevated (experimental group: M= 11.36, SD = 4.84; M= 13.82, SD = 4.78; control group: M= 11.4, SD = 4.8; M= 13.6, SD = 4.6). Symptom severity decreased more significantly in the group receiving internet psychotherapy in addition to medical treatment than in the control group, with medium effect sizes observed for depression symptoms (η2= 0.145, P= 0.003) and anxiety symptoms (η2= 0.238, P&lt; 0.001). Furthermore, the reduction in anxiety and depression scores in the internet psychotherapy group was notably more significant than in the control group, with a moderate effect size (η2= 0.177, P= 0.041). Conclusion: Augmenting medical therapy with therapist-guided internet-based psychotherapy may effectively reduce depression, anxiety, and psychological distress in pregnant women experiencing high-risk pregnancies and comorbid depression. These findings suggest that hospitalized, depressed pregnant women with high-risk pregnancies should be offered internet-based psychotherapy as an adjunctive treatment option.

Dissimilar welded joints are widely used nowadays in power engineering industry for manufacturing of pipelines and other power equipment elements. Diagnostics of welding defects in these joints by nondestructive testing (NDT) is quite difficult, since high gradients of chemical composition and microstructure reduce the sensitivity of traditional NDT scanning methods. The paper is devoted to the study of the possibility of AE method application for diagnostics of dissimilar welded joints of pearlitic to austenitic steel. The identification of defects lack of penetration and microstructure defects in the form of diffusion interlayers under cyclic tensile loading of flat specimens with welded joints is considered. As a result of the research, it was found that dissimilar welded joints containing defects are characterized by a specific AE signature. It was established that for welded specimens with lack of penetration and diffusion interlayers, the AE activity turned out to be significantly higher than for defect-free ones. Herewith, specimens with diffusion interlayers are characterized by large amplitude values (up to 70–80 dB), and specimens with lack of penetration are characterized by higher AE activity, while the amplitudes of AE hits did not exceed 60–65 dB. The results obtained can be used for determination of diagnostic criteria for detecting defects by AE method and subsequent development of an industrial NDT technique for dissimilar welded joints under study.

•Un parcours non optimal pour les patients tabagiques en pré-chirurgical.•Manque de communication entre la ville et l’hôpital.•Manque d’information du pharmacien.•Pour améliorer le parcours : augmentation en compétences du pharmacien.

•Medication reconciliation and pharmaceutical analysis of prescriptions is useful to ensure optimal drug risk management and avoid medication errors with serious clinical consequences.•High-risk medication are implicated in most errors with clinical impacts uncovered by medication reconciliation and represent a quarter of those found by the pharmaceutical analysis of the prescription.•Pharmacy team input might support medical and nursing teams in the context of acute clinical situations with treatment being delivered over a very short period.

As asphalt binder is a temperature-dependent viscoelastic material, the asphalt pavement performance is affected by the temperature during its service life. Traditionally, selecting the asphalt binder performance grade (PG) is based on long-term meteorological data analysis, but this study used MODIS and ASTER remotely-sensed (RS), reanalysis ERA5-Land, and in-situ meteorological datasets to select the PG. The multiple linear regression (MLR), genetic algorithm (GA), and deep-learning (DL) techniques were used to create models to estimate the maximum air and road pavement surface temperatures, considering the Superpave specifications. Model parameters involved the land surface temperature, vegetation index, elevation, ERA5-Land air temperature, soil moisture, wind speed, thermal radiation, evapotranspiration, latitude, and climate type. Comparative analyses revealed that the DL model yielded the most reliable PG results and the proposed RS-based method was more accurate than conventional approaches and could determine the PG accurately with 1 km resolution independent of distance to meteorological stations.

Les tumeurs neuroendocrines pancréatiques sont des tumeurs rares, mais dont l’incidence est en augmentation sur les dernières décennies. Ce sont des lésions bien différenciées classées selon leur index de prolifération Ki67 (grade 1 à 3). Les tumeurs neuroendocrines pancréatiques sont le plus souvent sporadiques, mais s’intègrent parfois dans un syndrome génétique comme la néoplasie endocrine multiple de type 1. Ces tumeurs sont souvent découvertes fortuitement ou parfois révélées par des signes cliniques en lien avec l’extension tumorale ou avec un syndrome fonctionnel dû à une hypersécrétion hormonale (moins de 20 % des cas). Dans près de la moitié des cas, elles sont diagnostiquées au stade métastatique avec une atteinte principalement hépatique. Le bilan d’extension comporte le dosage plasmatique de la chromogranine A, un scanner thoraco-abdomino-pelvien et souvent une IRM abdominale, et une imagerie des récepteurs de la somatostatine, parfois associé à une TEP au 18F-Fluorodeoxyglucose. Du fait de leur croissance tumorale relativement lente, les patients ont une survie prolongée même au stade métastatique. Le traitement des tumeurs neuroendocrines pancréatiques localisées repose sur la résection chirurgicale, à l’exception de certaines tumeurs asymptomatiques sporadiques de moins de deux centimètres (incidentalomes). Les options thérapeutiques pour les tumeurs non résécables ou métastatiques incluent la chirurgie, les analogues de la somatostatine, la chimiothérapie, les thérapies ciblées (sunitinib, évérolimus), la chimioembolisation hépatique et la radiothérapie interne vectorisée. Le choix de la stratégie thérapeutique reposera sur le grade tumoral, l’extension tumorale initiale, la vitesse d’évolution mais aussi le choix du patient.

Malgré les progrès récents de l’imagerie médicale, la distinction des lésions surrénaliennes entre lésion bénigne et maligne reste laborieuse. On peut estimer à 25 % le taux de chirurgies qui pourraient être évitées dans cette indication. L’objectif de cette étude est d’évaluer l’apport de l’intelligence artificielle, en particulier du deep-learning sur scanner préopératoire pour la distinction des lésions surrénaliennes bénignes et malignes.

The urbanisation and its detrimental impact on climate is a well-documented phenomenon in today’s world, but research documenting the Urban Pollution Island (UPI) especially over South Asia is seldom found. With the advancement of the satellite datasets, the quantification of UPI has become possible only in recent years. When measured using satellite data, the UPI is the spatial anomaly of Aerosol Optical Depth (AOD) over an urban area with reference to a nearby non-urban zone. UPI may influence energy budget, precipitation patterns and human health over the city. In the present research, it has been attempted to analyse the climatology and characteristics of UPI and its association with the Surface Urban Heat Island (SUHI) over six cities (Patna, Gaya, Ranchi, Jamshedpur, Bardhaman and Siliguri) from eastern India, which is a highly populated region and infamous for climatic concerns. Alongside, a Surface PM2.5 data is also investigated further, to find heat and pollution island links. The UPI–SUHI interactions have been evaluated and found to be very distinct for each city. It is found that high urban AOD value can be noticed irrespective of the UPI magnitude over Patna. Bardhaman has exhibited very high AOD (> 3.0) even in very low UPI conditions. Jamshedpur’s urban loadings found to be contributing somewhere to UPI formations. UPII has also shown a clear sign of a seasonal cycle across the cities. In Patna, increase in PM2.5 may be linked to SUHII in medium loading cases and very high PM2.5 loadings (> 200 μg/m3) result in low average SUHII. It may be summarised that Patna, Gaya and Bardhaman are exhibiting high surface PM2.5 loads over urban zones, whilst Ranchi, Siliguri and Jamshedpur have much cleaner urban air. The Mann–Kendall test and Pettitt’s test also detected significant increasing trend and change point in recent times for UPI intensity. The well-developed UPI system shows an exigency of more in-depth studies to mitigate the detrimental effects of UPI–SUHI in upcoming times.

Photochemistry is a fundamental process of planetary atmospheres that regulates the atmospheric composition and stability1. However, no unambiguous photochemical products have been detected in exoplanet atmospheres so far. Recent observations from the JWST Transiting Exoplanet Community Early Release Science Program2,3found a spectral absorption feature at 4.05 μm arising from sulfur dioxide (SO2) in the atmosphere of WASP-39b. WASP-39b is a 1.27-Jupiter-radii, Saturn-mass (0.28 MJ) gas giant exoplanet orbiting a Sun-like star with an equilibrium temperature of around 1,100 K (ref. 4). The most plausible way of generating SO2in such an atmosphere is through photochemical processes5,6. Here we show that the SO2distribution computed by a suite of photochemical models robustly explains the 4.05-μm spectral feature identified by JWST transmission observations7with NIRSpec PRISM (2.7σ)8and G395H (4.5σ)9. SO2is produced by successive oxidation of sulfur radicals freed when hydrogen sulfide (H2S) is destroyed. The sensitivity of the SO2feature to the enrichment of the atmosphere by heavy elements (metallicity) suggests that it can be used as a tracer of atmospheric properties, with WASP-39b exhibiting an inferred metallicity of about 10× solar. We further point out that SO2also shows observable features at ultraviolet and thermal infrared wavelengths not available from the existing observations.

Energy management, emission reductions, and sustainable development are directly linked. The use of renewable energy and intelligent control systems serves two goals: sustainable development and energy supply. In this paper, we propose an improved intelligent hybrid renewable energy management system to utilize local renewable energy. The penetration of renewable energy in this study starts from 20 and 50% and reaches 100%. The innovation of this research is the use of a dynamic decision algorithm in an intelligent system microcontroller that can determine the maximum possibility of hybridization of local solar and wind energy sources and optimize the electricity demand of the residential unit. The results show that the proposed control strategy in the first scenario, with average daily fuel consumption of 1.11 L, the total energy produced by the hybrid renewable energy conversion system is equal to 1697 kWh/year, and the NPV is $ 553.68 and the IRR is 49.9. 21% with a payback period of 15.71 years. In the second scenario, with average daily fuel consumption of 0.694 L, the energy production is equivalent to 1652 kWh/year. The NPV is equal to $ 341.47 and IRR is equal to 19.5% with a ROI of 17.61 years. In the third scenario, the energy production of the system was equal to 1933 kWh/year with NPV equal to − 372.9 dollars and IRR equal to 15.08%. The intelligent power control system received the electricity generated by the renewable energy subsystems and provides the electricity needed by the green cottage based on the proposed decision algorithm.

Lors de l’hospitalisation, certains patients apportent leurs médicaments en chambre. Cette pratique est source d’erreur, avec un risque de double prise. L’arrêté du 31 mars 1999 à l’article L. 595-1 du Code de santé publique précise : « Les médicaments dont ils disposent à leur entrée leur seront retirés, sauf accord des prescripteurs précités ».

Transmission spectroscopy1–3of exoplanets has revealed signatures of water vapour, aerosols and alkali metals in a few dozen exoplanet atmospheres4,5. However, these previous inferences with the Hubble and Spitzer Space Telescopes were hindered by the observations’ relatively narrow wavelength range and spectral resolving power, which precluded the unambiguous identification of other chemical species—in particular the primary carbon-bearing molecules6,7. Here we report a broad-wavelength 0.5–5.5 µm atmospheric transmission spectrum of WASP-39b8, a 1,200 K, roughly Saturn-mass, Jupiter-radius exoplanet, measured with the JWST NIRSpec’s PRISM mode9as part of the JWST Transiting Exoplanet Community Early Release Science Team Program10–12. We robustly detect several chemical species at high significance, including Na (19σ), H2O (33σ), CO2(28σ) and CO (7σ). The non-detection of CH4, combined with a strong CO2feature, favours atmospheric models with a super-solar atmospheric metallicity. An unanticipated absorption feature at 4 µm is best explained by SO2(2.7σ), which could be a tracer of atmospheric photochemistry. These observations demonstrate JWST’s sensitivity to a rich diversity of exoplanet compositions and chemical processes.

Measuring the abundances of carbon and oxygen in exoplanet atmospheres is considered a crucial avenue for unlocking the formation and evolution of exoplanetary systems1,2. Access to the chemical inventory of an exoplanet requires high-precision observations, often inferred from individual molecular detections with low-resolution space-based3–5and high-resolution ground-based6–8facilities. Here we report the medium-resolution (R≈ 600) transmission spectrum of an exoplanet atmosphere between 3 and 5 μm covering several absorption features for the Saturn-mass exoplanet WASP-39b (ref. 9), obtained with the Near Infrared Spectrograph (NIRSpec) G395H grating of JWST. Our observations achieve 1.46 times photon precision, providing an average transit depth uncertainty of 221 ppm per spectroscopic bin, and present minimal impacts from systematic effects. We detect significant absorption from CO2(28.5σ) and H2O (21.5σ), and identify SO2as the source of absorption at 4.1 μm (4.8σ). Best-fit atmospheric models range between 3 and 10 times solar metallicity, with sub-solar to solar C/O ratios. These results, including the detection of SO2, underscore the importance of characterizing the chemistry in exoplanet atmospheres and showcase NIRSpec G395H as an excellent mode for time-series observations over this critical wavelength range10.

Predicting the evolution of a pandemic requires precise understanding of the pathogen and disease progression, the susceptible population group, means of transmission, and possible control mechanisms. It has been a significant challenge as Covid-19 virus (SARS-CoV-2 family) is not well understood yet; the entire human population is susceptible, and the virus transmits easily through airborne particles. Given its size and connectedness, it is not feasible to test the entire population and to isolate the infected individuals. Moreover, rapid and continuous mutation of virus open up the possibility of reinfection. As a result, the evolution of pandemic is not uniform and in-step throughout the world but is significantly influenced by local characteristics pertaining to people, places, dominant virus strain, extent of vaccination, and adherence to pandemic control interventions. Traditional macro-modelling techniques, such as variations of SEIR models, provide only a coarse-grained, ‘lumped up’ understanding of the pandemic which is not enough for exploring and understanding possible fine-grained factors that are effective for controlling the Covid-19 pandemic. This paper explores the problem space from a system theoretic perspective and presents a fine-grained city digital twin as an in-silico experimentation aid to understand the complex interplay of factors that influence infection spread and also help in controlling the Covid-19 pandemic. Our focus is not to speculate the possibility of the next wave or how the next wave may look like. Instead, we systematically seek answers to questions such as: what are indicators should we consider for a future wave? What are the parameters that may influence those indicators? When and why should they be tweaked (in terms of interventions) to control unacceptable situations? We validate our approach on the second and third waves of Covid-19 pandemic in Pune city.

La classification transcriptome sépare les tumeurs bénignes (cluster « C2 ») des corticosurrénalomes et identifie deux groupes de corticosurrénalomes, « C1A » (signature stéroïde et prolifération), de mauvais pronostic, et « C1B » (signature immune), de pronostic bien meilleur. Ces signatures étant définies à l’échelle du tissu (« bulk »), la composition et le rôle du microenvironnement tumoral restent peu connus. L’objectif de cette étude est de réaliser l’atlas cellulaire des corticosurrénalomes.

Pathogenic microorganisms can adhere to the surfaces of water conducting systems, finally resulting in biofilm structures. Considering the importance of the adhesion capability of cells and the biofilm formation in these surfaces, their inhibition by using naturally occurring antimicrobial compounds can be a potential alternative or complement to water chlorination. This work aimed to study the antiadhesive capability of vanillin-functionalized stainless-steel surfaces against bacteria present in low-pressure water distribution network. Stainless-steel surfaces were pretreated (by sanding or polishing) and activated, allowing the covalent anchoring of vanillin to the stainless-steel. Characterization of functionalized surfaces, by macroscopic, microscopic, and elemental analysis confirmed the efficiency of the vanillin anchoring protocol. Subsequently, in vitroantiadhesive capability assays were performed with Staphylococcus epidermidisas a model microorganism to assess the antiadhesiveness capacity of the functionalized surfaces. This assay allowed the confirmation of the capacity of vanillin-functionalized surfaces to prevent the adhesion of S. epidermidisto the stainless-steel surfaces. Finally, grates were functionalized and placed in low-pressure water conduction pipes in the city of Valencia, Spain. After placement, samples of the biofilm adhered to the grates were taken at certain times and analyzed through metagenomic analysis. The results showed statistically significant differences in both the amount and type of bacterial strains adhered to vanillin-functionalized and non-functionalized grates. These findings demonstrated for the first time the potential application of vanillin-functionalized stainless-steel surfaces in water conduction systems to avoid the adhesive ability of bacteria, preventing their contamination and/or biofilm formation.

Valproic acid or valproate is an effective antiepileptic drug; however, embryonic exposure to valproate can result in a teratogenic disorder referred to as fetal valproate syndrome (OMIM #609442). Currently there are no diagnostic biomarkers for the condition. This study aims to define an episignature biomarker for teratogenic antenatal exposure to valproate.

This work evaluated the potential of natural antimicrobial compounds to prevent histamine formation by inhibiting the microbial growth of Lentilactobacillus parabuchneriand Limosilactobacillus reuteri,bacteria selected for their ability to produce histamine in cheese. Of the evaluated compounds, eugenol, carvacrol, thymol and cinnamaldehyde were the most effective in inhibiting histamine-forming lactic acid bacteria and, therefore, in reducing histamine generation, even at concentrations below the minimum bactericidal concentration (MBC). Carvacrol significantly impacted both microbial viability and the metabolism of bacteria with the inhibition of decarboxylase activity. In the case of L. parabuchneri, the use of 0.7 mg/mL carvacrol (MBC/2) resulted in an 88% reduction in histamine content, and for L. reuteria 96% reduction was observed by using 0.65 mg/(MBC/2). Therefore, using essential oil components during food processing and preservation would be a good strategy to prevent histamine accumulating in cheese and to, consequently, mitigate its adverse effects.

In many temperate soybean [Glycine max(L.) Merr.] production systems sowing date expands for several months. Early sowing dates commonly show maximum yields, but their consequences for crop N uptake and biological nitrogen fixation (BNF) are unknown. Our objective was to evaluate the role of sowing date, a major management variable defining soybean yield, on BNF. We hypothesized BNF is maximum at intermediate sowings because BNF is limited by low soil temperatures at early sowing dates and by high soil nitrate concentrations at later sowings. Four genotypes (maturity groups [MGs] IV and V) were tested over a 16‐wk sowing date period, and a N fertilizer treatment at sowing was added in all sowing date by genotype combinations (0 and 100 kg N ha–1). The N fertilization treatment helped to test sowing date effects independently of soil N availability. Seed yield and total N uptake were affected by sowing date and genotype, but not by the N treatment. Both seed yield and total N uptake followed similar quadratic responses, but MG V genotypes maximized yield and N uptake at the earliest sowing while MG IV cultivars maximized both traits at intermediate sowings. However, delaying sowing date always decreased the proportion of total aboveground N that came from BNF (average decline 0.22% d–1). Nitrogen fertilization reduced BNF by 15% across sowing dates and genotypes, with no yield effect. The linear decline in BNF with delayed sowing dates, instead of an optimum response, supports the concept that soil nitrates are the main driver of soybean BNF in this production system. Later sowings showed lower yields because of lower N uptake.Percentage biological nitrogen fixation was negatively correlated with sowing date (average decline −0.22% d−1).Sowing soil temperatures around 11°C did not reduce biological nitrogen fixation.Nitrogen fertilization reduced biological nitrogen fixation by 15% across sowing dates and genotypes.Results support that sowing date effects over biological nitrogen fixation are more related to soil N than to soil temperatures.

Although haploinsufficiency of ANKRD11is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11missense variants.

This monocentric study included fifteen children under a year old in intensive care with suspected monogenic conditions for rapid trio exome sequencing (rES) between April 2019 and April 2021. The primary outcome was the time from blood sampling to rapid exome sequencing report to parents. All results were available within 16 days and were reported to parents in or under 16 days in 13 of the 15 individuals (86%). Six individuals (40%) received a diagnosis with rES, two had a genetic condition not diagnosed by rES. Eight individuals had their care impacted by their rES results, four were discharged or died before the results. This small-scale study shows that rES can be implemented in a regional University hospital with rapid impactful diagnosis to improve care in critically ill infants.

Social determinants of health (SDOH) are defined as the set of modifiable social and physical risk factors that affect health. It is known that SDOH directly influence the population’s overall health, but their effects on patients with cancer are considerably less elucidated. Here, we review the literature describing the effects of SDOH outlined by the Healthy People 2020 framework on patients diagnosed with cancer. We have found that while some SDOH are well-defined in cancer patients, evidence surrounding several variables is scarce. In addition, we have found that many SDOH are associated with disparities at the screening stage, indicating that upstream interventions are necessary before addressing the clinical outcomes themselves. Further investigation is warranted to understand how SDOH affect screenings and outcomes in multiple disciplines of oncology and types of cancers as well as explore how SDOH affect the treatments sought by these vulnerable patients.

Drought is one of the important abiotic stresses that affects the phenological stages and crop productivity. Phenological stages can seriously influence the crop yield and quality. In this study, phenological traits including days to germination, days to tillering, days to stem elongation, days to head emergence, days to dough development in kernel, days to physiological maturity, number of grains per spike, thousand kernels weight, grain yield were evaluated in 148 commercial barley cultivars in both years under normal and drought stress conditions. In molecular experiment, the molecular profile of barley cultivars was assessed by 14 AFLP primer combinations and 32 SSRs loci. The phenotypic results showed the high level of diversity between studied cultivars. The studied barley cultivars were divided into two subgroups. Linkage disequilibrium analysis revealed that r2values among all possible markers pairs have an average value of 0.0178. Mixed linear model procedure showed that totally, 137 loci had significant association with nine investigated traits under normal and drought stress conditions. The identified markers potentially can be used in marker-assisted selection in barley drought resistant breeding programs.

Kabuki syndrome (KS) is a rare genetic disorder caused by mutations in two major genes, KMT2Dand KDM6A, that are responsible for Kabuki syndrome 1 (KS1, OMIM147920) and Kabuki syndrome 2 (KS2, OMIM300867), respectively. We lack a description of clinical signs to distinguish KS1 and KS2. We used facial morphology analysis to detect any facial morphological differences between the two KS types. We used a facial-recognition algorithm to explore any facial morphologic differences between the two types of KS. We compared several image series of KS1 and KS2 individuals, then compared images of those of Caucasian origin only (12 individuals for each gene) because this was the main ethnicity in this series. We also collected 32 images from the literature to amass a large series. We externally validated results obtained by the algorithm with evaluations by trained clinical geneticists using the same set of pictures. Use of the algorithm revealed a statistically significant difference between each group for our series of images, demonstrating a different facial morphotype between KS1 and KS2 individuals (mean area under the receiver operating characteristic curve = 0.85 [p= 0.027] between KS1 and KS2). The algorithm was better at discriminating between the two types of KS with images from our series than those from the literature (p= 0.0007). Clinical geneticists trained to distinguished KS1 and KS2 significantly recognised a unique facial morphotype, which validated algorithm findings (p= 1.6e−11). Our deep-neural-network-driven facial-recognition algorithm can reveal specific composite gestalt images for KS1 and KS2 individuals.

Le paysage démographique mondial subit une transformation rapide caractérisée par le vieillissement accéléré de la population. Concomitamment, l’augmentation de la polypharmacie, définie comme la prise simultanée de plusieurs médicaments, a donné lieu à une augmentation substantielle du risque d’exposition aux médicaments potentiellement inappropriés (MPI) chez les individus âgés de plus de 65 ans.

Le syndrome douloureux régional complexe (SDRC) est une pathologie articulaire et périarticulaire dont le seul traitement est symptomatique. La prise en charge des patients souffrant de SDRC est souvent complexe, et nous avons fait l’hypothèse que le pharmacien clinicien, par le biais des entretiens pharmaceutiques, pourrait être l’un des éléments qui faciliterait cette prise en charge.

Les pharmaciens cliniciens réduisent les évènements indésirables médicamenteux (EIM) par leurs interventions pharmaceutiques (IP). En orthopédie, les IP par les pharmaciens sont fréquentes dû au profil complexe des patients (gériatrie, infections…) et permettraient de réduire les coûts associés aux EIM.

Depuis plusieurs années, le rôle du pharmacien n’est plus uniquement concentré sur la dispensation des médicaments au comptoir. En effet de nombreux textes de lois et plusieurs recommandations de la Société française de pharmacie clinique ont ouvert le métier de pharmacien à de nouvelles missions telles que par exemple la mise en place d’entretiens pharmaceutiques en officine.

Rare genetic variants in CDK13are responsible for CDK13-related disorder (CDK13-RD), with main clinical features being developmental delay or intellectual disability, facial features, behavioral problems, congenital heart defect, and seizures. In this paper, we report 18 novel individuals with CDK13-RD and provide characterization of genome-wide DNA methylation.

Gabriele-de Vries syndrome (GADEVS) is a rare genetic disorder characterized by developmental delay and/or intellectual disability, hypotonia, feeding difficulties, and distinct facial features. To refine the phenotype and to better understand the molecular basis of the syndrome, we analyzed clinical data and performed genome-wide DNA methylation analysis of a series of individuals carrying a YY1variant.

La rate peut être atteinte par de nombreuses affections dont certaines sont facilement diagnostiquées par l’imagerie classique grâce essentiellement au scanner et à l’imagerie par résonance magnétique. Malgré l’apport de techniques de radiologie fonctionnelle comme la tomographie à émission de positons, le diagnostic de certaines lésions focales spléniques est parfois difficile et nécessite une confirmation histologique par biopsie percutanée ou très rarement une intervention diagnostique. Une fois le diagnostic établi le traitement repose sur la chirurgie : splénectomie totale lorsque l’étiologie est maligne, sinon partielle chaque fois que possible lorsque la lésion est bénigne mais symptomatique et/ou à risque de rupture.