Search results for: Marie%20J.%20Dumont

Authors: Artem Kim, Clara Savary, Christele Dubourg, Wilfrid Carre, Houda Hamdi-Roze, Valerie Dupé, Sylvie Odent, Marie De Tayrac, Veronique David

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Holoprosencephaly (HPE) is a rare congenital brain malformation resulting from the incomplete separation of the two cerebral hemispheres. It is characterized by a wide phenotypic spectrum and a high degree of locus heterogeneity. Genetic defects in 16 genes have already been implicated in HPE, but account for only 30% of cases, suggesting that a large part of genetic factors remains to be discovered. HPE has been recently redefined as a complex multigenic disorder, requiring the joint effect of multiple mutational events in genes belonging to one or several developmental pathways. The onset of HPE may result from accumulation of the effects of multiple rare variants in functionally-related genes, each conferring a moderate increase in the risk of HPE onset. In order to decipher the genetic basis of HPE, unconventional patterns of inheritance involving multiple genetic factors need to be considered. The primary objective of this study was to uncover possible disease causing combinations of multiple rare variants underlying HPE by performing trio-based Whole Exome Sequencing (WES) of familial cases where no molecular diagnosis could be established. 39 families were selected with no fully-penetrant causal mutation in known HPE gene, no chromosomic aberrations/copy number variants and without any implication of environmental factors. As the main challenge was to identify disease-related variants among a large number of nonpathogenic polymorphisms detected by WES classical scheme, a novel variant prioritization approach was established. It combined WES filtering with complementary gene-level approaches: transcriptome-driven (RNA-Seq data) and clinically-driven (public clinical data) strategies. Briefly, a filtering approach was performed to select variants compatible with disease segregation, population frequency and pathogenicity prediction to identify an exhaustive list of rare deleterious variants. The exome search space was then reduced by restricting the analysis to candidate genes identified by either transcriptome-driven strategy (genes sharing highly similar expression patterns with known HPE genes during cerebral development) or clinically-driven strategy (genes associated to phenotypes of interest overlapping with HPE). Deeper analyses of candidate variants were then performed on a family-by-family basis. These included the exploration of clinical information, expression studies, variant characteristics, recurrence of mutated genes and available biological knowledge. A novel bioinformatics pipeline was designed. Applied to the 39 families, this final integrated workflow identified an average of 11 candidate variants per family. Most of candidate variants were inherited from asymptomatic parents suggesting a multigenic inheritance pattern requiring the association of multiple mutational events. The manual analysis highlighted 5 new strong HPE candidate genes showing recurrences in distinct families. Functional validations of these genes are foreseen.

Keywords: complex genetic disorder, holoprosencephaly, multiple rare variants, whole exome sequencing

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Authors: Kinga Wieczorek, Elzbieta Kukier, Remigiusz Pomykala, Beata Lachtara, Renata Szewczyk, Krzysztof Kwiatek, Jacek Osek

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The MICRORISK project (Research cooperation in assessment of microbiological hazard and risk in the food chain) was funded by the European Commission under the FP7 PEOPLE 2012 IRSES call within the International Research Staff Exchange Scheme of Marie Curie Action and realized during years from 2014 to 2015. The main aim of the project was to establish a cooperation between the European Union (EU) and the third State in the area important from the public health point of view. The following organizations have been engaged in the activity: National Veterinary Research Institute (NVRI) in Pulawy, Poland (coordinator), French Agency for Food, Environmental and Occupational Health & Safety (ANSES) in Maisons Alfort, France, National Scientific Center Institute of Experimental and Clinical Veterinary Medicine (NSC IECVM), Kharkov and State Scientific and Research Institute of Laboratory Diagnostics and Veterinary and Sanitary Expertise (SSRILDVSE) Kijev Ukraine. The results of the project showed that Ukraine used microbiological criteria in accordance with Commission Regulation (EC) No 2073/2005 of 15 November 2005 on microbiological criteria for foodstuffs. Compliance concerns both the criteria applicable at the stage of food safety (retail trade), as well as evaluation criteria and process hygiene in food production. In this case, the Ukrainian legislation also provides application of the criteria that do not have counterparts in the food law of the European Union, and are based on the provisions of Ukrainian law. Partial coherence of the Ukrainian and EU legal requirements in terms of microbiological criteria for food and feed concerns microbiological parameters such as total plate count, coliforms, coagulase-positive Staphylococcus spp., including S. aureus. Analysis of laboratory methods used for microbiological hazards control in food production chain has shown that most methods used in the EU are well-known by Ukrainian partners, and many of them are routinely applied as the only standards in the laboratory practice or simultaneously used with Ukrainian methods. The area without any legislation, where the EU regulation and analytical methods should be implemented is the area of Shiga toxin producing E. coli, including E. coli O157 and staphylococcal enterotoxin detection. During the project, the analysis of the existing Ukrainian and EU data concerning the prevalence of the most important food-borne pathogens on different stages of food production chain was performed. Particularly, prevalence of Salmonella spp., Campylobacter spp., L. monocytogenes as well as clostridia was examined. The analysis showed that poultry meat still appears to be the most important food-borne source of Campylobacter and Salmonella in the UE. On the other hand, L. monocytogenes were seldom detected above the legal safety limit (100 cfu/g) among the EU countries. Moreover, the analysis revealed the lack of comprehensive data regarding the prevalence of the most important food-borne pathogens in Ukraine. The results of the MICRORISK project are networking activities among researches originations participating in the tasks will help with a better recognition of each other regarding very important, from the public health point of view areas such as microbiological hazards in the food production chain and finally will help to improve food quality and safety for consumers.

Keywords: cooperation, European Union, food chain safety, food law, microbiological risk, Microrisk, Poland, Ukraine

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Authors: Elizabeth J. Currie, Fernando Ortega Perez

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—‘MEDICINE’ is a new project funded under the EC Horizon 2020 Marie-Sklodowska Curie Actions, to determine concepts of health and healing from a culturally specific indigenous context, using a framework of interdisciplinary methods which integrates archaeological-historical, ethnographic and modern health sciences approaches. The study will generate new theoretical and methodological approaches to model how peoples survive and adapt their traditional belief systems in a context of alien cultural impacts. In the immediate wake of the conquest of Peru by invading Spanish armies and ideology, native Andeans responded by forming the Taki Onkoy millenarian movement, which rejected European philosophical and ontological teachings, claiming “you make us sick”. The study explores how people’s experience of their world and their health beliefs within it, is fundamentally shaped by their inherent beliefs about the nature of being and identity in relation to the wider cosmos. Cultural and health belief systems and related rituals or behaviors sustain a people’s sense of identity, wellbeing and integrity. In the event of dislocation and persecution these may change into devolved forms, which eventually inter-relate with ‘modern’ biomedical systems of health in as yet unidentified ways. The development of new conceptual frameworks that model this process will greatly expand our understanding of how people survive and adapt in response to cultural trauma. It will also demonstrate the continuing role, relevance and use of TM in present-day indigenous communities. Studies will first be made of relevant pre-Colombian material culture, and then of early colonial period ethnohistorical texts which document the health beliefs and ritual practices still employed by indigenous Andean societies at the advent of the 17^th century Jesuit campaigns of persecution - ‘Extirpación de las Idolatrías’. Core beliefs drawn from these baseline studies will then be used to construct a questionnaire about current health beliefs and practices to be taken into the study population of indigenous Quechua peoples in the northern Andean region of Ecuador. Their current systems of knowledge and medicine have evolved within complex historical contexts of both the conquest by invading Inca armies in the late 15^th century, followed a generation later by Spain, into new forms. A new model will be developed of contemporary  Andean concepts of health, illness and healing demonstrating  the way these have changed through time. With this, a ‘policy tool’ will be constructed as a bridhging facility into contemporary global scenarios relevant to other Indigenous, First Nations, and migrant peoples to provide a means through which their traditional health beliefs and current needs may be more appropriately understood and met. This paper presents findings from the first analytical phases of the work based upon the study of the literature and the archaeological records. The study offers a novel perspective and methods in the development policies sensitive to indigenous and minority people’s health needs.

Keywords: Andean ethnomedicine, Andean health beliefs, health beliefs models, traditional medicine

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Authors: Hugo Daneluzzo, Christelle Rabbat, Alan Jean-Marie

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Water electrolysis is one of the most advanced technologies for producing hydrogen and can be easily combined with electricity from different sources. Under the influence of electric current, water molecules can be split into oxygen and hydrogen. The production of hydrogen by water electrolysis favors the integration of renewable energy sources into the energy mix by compensating for their intermittence through the storage of the energy produced when production exceeds demand and its release during off-peak production periods. Among the various electrolysis technologies, anion exchange membrane (AEM) electrolyser cells are emerging as a reliable technology for water electrolysis. Modeling and simulation are effective tools to save time, money, and effort during the optimization of operating conditions and the investigation of the design. The modeling and simulation become even more important when dealing with multiphysics dynamic systems. One of those systems is the AEM electrolysis cell involving complex physico-chemical reactions. Once developed, models may be utilized to comprehend the mechanisms to control and detect flaws in the systems. Several modeling methods have been initiated by scientists. These methods can be separated into two main approaches, namely equation-based modeling and graph-based modeling. The former approach is less user-friendly and difficult to update as it is based on ordinary or partial differential equations to represent the systems. However, the latter approach is more user-friendly and allows a clear representation of physical phenomena. In this case, the system is depicted by connecting subsystems, so-called blocks, through ports based on their physical interactions, hence being suitable for multiphysics systems. Among the graphical modelling methods, the bond graph is receiving increasing attention as being domain-independent and relying on the energy exchange between the components of the system. At present, few studies have investigated the modelling of AEM systems. A mathematical model and a bond graph model were used in previous studies to model the electrolysis cell performance. In this study, experimental data from literature were simulated using OpenModelica using bond graphs and mathematical approaches. The polarization curves at different operating conditions obtained by both approaches were compared with experimental ones. It was stated that both models predicted satisfactorily the polarization curves with error margins lower than 2% for equation-based models and lower than 5% for the bond graph model. The activation polarization of hydrogen evolution reactions (HER) and oxygen evolution reactions (OER) were behind the voltage loss in the AEM electrolyzer, whereas ion conduction through the membrane resulted in the ohmic loss. Therefore, highly active electro-catalysts are required for both HER and OER while high-conductivity AEMs are needed for effectively lowering the ohmic losses. The bond graph simulation of the polarisation curve for operating conditions at various temperatures has illustrated that voltage increases with temperature owing to the technology of the membrane. Simulation of the polarisation curve can be tested virtually, hence resulting in reduced cost and time involved due to experimental testing and improved design optimization. Further improvements can be made by implementing the bond graph model in a real power-to-gas-to-power scenario.

Keywords: hydrogen production, anion-exchange membrane, electrolyzer, mathematical modeling, multiphysics modeling

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Authors: Elena Iacob, Marie-Louise Ionescu, Elena Ionescu, Carmen Elena Tebrencu, Oana Teodora Ciuperca

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Infrared spectroscopy (FT-IR) is an advanced technique frequently used to authenticate both raw materials and final products using their specific fingerprints and to determine plant extracts biomarkers based on their functional groups. In recent years the market for Hypericum has grown rapidly and also has grown the cases of adultery/replacement, especially for Hypericum perforatum L.specie. Presence/absence of same biomarkers provides preliminary identification of Hypericum species in safe use in the manufacture of food supplements. The main objective of the work was to characterize the main biomarkers of Hypericum perforatum L. (St. John's wort) and identify this species in herbal food supplements after specific FT-IR fingerprint. An experimental program has been designed in order to test: (1) raw material (St. John's wort); (2)intermediate raw materials (St. John's wort dry extract ); (3) the finished products: tablets based on powders, on extracts, on powder and extract, hydroalcoholic solution from herbal mixture based on St. John's wort. The analyze using FTIR infrared spectroscopy were obtained raw materials, intermediates and finished products spectra, respectively absorption bands corresponding and similar with aliphatic and aromatic structures; examination was done individually and through comparison between Hypericum perforatum L. plant species and finished product The tests were done in correlation with phytochemical markers for authenticating the specie Hypericum perforatum L.: hyperoside, rutin, quercetin, isoquercetin, luteolin, apigenin, hypericin, hyperforin, chlorogenic acid. Samples were analyzed using a Shimatzu FTIR spectrometer and the infrared spectrum of each sample was recorded in the MIR region, from 4000 to 1000 cm-1 and then the fingerprint region was selected for data analysis. The following functional groups were identified -stretching vibrations suggests existing groups in the compounds of interest (flavones–rutin, hyperoside, polyphenolcarboxilic acids - chlorogenic acid, naphtodianthrones- hypericin): oxidril groups (OH) free alcohol type: rutin, hyperoside, chlorogenic acid; C = O bond from structures with free carbonyl groups of aldehyde, ketone, carboxylic, ester: hypericin; C = O structure with the free carbonyl of the aldehyde groups, ketone, carboxylic acid, esteric/C = O free bonds present in chlorogenic acid; C = C bonds of the aromatic ring (condensed aromatic hydrocarbons, heterocyclic compounds) present in all compounds of interest; OH phenolic groups: present in all compounds of interest, C-O-C groups from glycoside structures: rutin, hyperoside, chlorogenic acid. The experimental results show that: (I)The six fingerprint region analysis indicated the presence of specific functional groups: (1) 1000 - 1130 cm-1 (C-O–C of glycoside structures); (2) 1200-1380 cm-1 (carbonyl C-O or O-H phenolic); (3) 1400-1450 cm-1 (C=C aromatic); (4) 1600- 1730 cm-1 (C=O carbonyl); (5) 2850 - 2930 cm-1 (–CH3, -CH2-, =CH-); (6) 338-3920 cm-1 (OH free alcohol type); (II)Comparative FT-IR spectral analysis indicate the authenticity of the finished products ( tablets) in terms of Hypericum perforatum L. content; (III)The infrared spectroscopy is an adequate technique for identification and authentication of the medicinal herbs , intermediate raw material and in the food supplements less in the form of solutions where the results are not conclusive.

Keywords: Authentication, FT-IR fingerprint, Herbal supplements, Hypericum perforatum L.

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Authors: Dmitriy Berillo, Areej K. A. Al-Jwaid, Jonathan L. Caplin, Andrew Cundy, Irina Savina

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Chlorophenols (CPs) are used as a precursor in the production of higher CPs and dyestuffs, and as a preservative. Contamination by CPs of the ground water is located in the range from 0.15-100mg/L. The EU has set maximum concentration limits for pesticides and their degradation products of 0.1μg/L and 0.5μg/L, respectively. People working in industries which produce textiles, leather products, domestic preservatives, and petrochemicals are most heavily exposed to CPs. The International Agency for Research on Cancers categorized CPs as potential human carcinogens. Existing multistep water purification processes for CPs such as hydrogenation, ion exchange, liquid-liquid extraction, adsorption by activated carbon, forward and inverse osmosis, electrolysis, sonochemistry, UV irradiation, and chemical oxidation are not always cost effective and can cause the formation of even more toxic or mutagenic derivatives. Bioremediation of CPs derivatives utilizing microorganisms results in 60 to 100% decontamination efficiency and the process is more environmentally-friendly compared with existing physico-chemical methods. Microorganisms immobilized onto a substrate show many advantages over free bacteria systems, such as higher biomass density, higher metabolic activity, and resistance to toxic chemicals. They also enable continuous operation, avoiding the requirement for biomass-liquid separation. The immobilized bacteria can be reused several times, which opens the opportunity for developing cost-effective processes for wastewater treatment. In this study, we develop a bioremediation system for CPs based on macroporous materials, which can be efficiently used for wastewater treatment. Conditions for the preparation of the macroporous material from specific bacterial strains (Pseudomonas mendocina and Rhodococus koreensis) were optimized. The concentration of bacterial cells was kept constant; the difference was only the type of cross-linking agents used e.g. glutaraldehyde, novel polymers, which were utilized at concentrations of 0.5 to 1.5%. SEM images and rheology analysis of the material indicated a monolithic macroporous structure. Phenol was chosen as a model system to optimize the function of the cryogel material and to estimate its enzymatic activity, since it is relatively less toxic and harmful compared to CPs. Several types of macroporous systems comprising live bacteria were prepared. The viability of the cross-linked bacteria was checked using Live/Dead BacLight kit and Laser Scanning Confocal Microscopy, which revealed the presence of viable bacteria with the novel cross-linkers, whereas the control material cross-linked with glutaraldehyde(GA), contained mostly dead cells. The bioreactors based on bacteria were used for phenol degradation in batch mode at an initial concentration of 50mg/L, pH 7.5 and a temperature of 30°C. Bacterial strains cross-linked with GA showed insignificant ability to degrade phenol and for one week only, but a combination of cross-linking agents illustrated higher stability, viability and the possibility to be reused for at least five weeks. Furthermore, conditions for CPs degradation will be optimized, and the chlorophenol degradation rates will be compared to those for phenol. This is a cutting-edge bioremediation approach, which allows the purification of waste water from sustainable compounds without a separation step to remove free planktonic bacteria. Acknowledgments: Dr. Berillo D. A. is very grateful to Individual Fellowship Marie Curie Program for funding of the research.

Keywords: bioremediation, cross-linking agents, cross-linked microbial cell, chlorophenol degradation

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Authors: Davide Palma, Dimitra Papagiannaki, Marco Minella, Manuel Lai, Rita Binetti, Claire Richard

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Modern analytical technologies allow us to detect water contaminants at trace and ultra-trace concentrations highlighting how a large number of organic compounds is not efficiently abated by most wastewater treatment facilities relying on biological processes; we usually refer to these micropollutants as contaminants of emerging concern (CECs). The availability of reliable end effective technologies, able to guarantee the high standards of water quality demanded by legislators worldwide, has therefore become a primary need. In this context, water plasma stands out among developing technologies as it is extremely effective in the abatement of numerous classes of pollutants, cost-effective, and environmentally friendly. In this work, a custom-built non-thermal pulsed plasma discharge generator was used to abate the concentration of selected CECs in the water samples. Samples were treated in a 50 mL pyrex reactor using two different types of plasma discharge occurring at the surface of the treated solution or, underwater, working with positive polarity. The distance between the tips of the electrodes determined where the discharge was formed: underwater when the distance was < 2mm, at the water surface when the distance was > 2 mm. Peak voltage was in the 100-130kV range with typical current values of 20-40 A. The duration of the pulse was 500 ns, and the frequency of discharge could be manually set between 5 and 45 Hz. Treatment of 100 µM diclofenac solution in MilliQ water, with a pulse frequency of 17Hz, revealed that surface discharge was more efficient in the degradation of diclofenac that was no longer detectable after 6 minutes of treatment. Over 30 minutes were required to obtain the same results with underwater discharge. These results are justified by the higher rate of H₂O₂ formation (21.80 µmolL⁻¹min⁻¹ for surface discharge against 1.20 µmolL⁻¹min⁻¹ for underwater discharge), larger discharge volume and UV light emission, high rate of ozone and NOx production (up to 800 and 1400 ppb respectively) observed when working with surface discharge. Then, the surface discharge was used for the treatment of the three selected perfluoroalkyl compounds, namely, perfluorooctanoic acid (PFOA), perfluorohexanoic acid (PFHxA), and pefluorooctanesulfonic acid (PFOS) both individually and in mixture, in ultrapure and groundwater matrices with initial concentration of 1 ppb. In both matrices, PFOS exhibited the best degradation reaching complete removal after 30 min of treatment (degradation rate 0.107 min⁻¹ in ultrapure water and 0.0633 min⁻¹ in groundwater), while the degradation rate of PFOA and PFHxA was slower of around 65% and 80%, respectively. Total nitrogen (TN) measurements revealed levels up to 45 mgL⁻¹h⁻¹ in water samples treated with surface discharge, while, in analogous samples treated with underwater discharge, TN increase was 5 to 10 times lower. These results can be explained by the significant NOx concentrations (over 1400 ppb) measured above functioning reactor operating with superficial discharge; rapid NOx hydrolysis led to nitrates accumulation in the solution explaining the observed evolution of TN values. Ionic chromatography measures confirmed that the vast majority of TN was under the form of nitrates. In conclusion, non-thermal pulsed plasma discharge, obtained with a custom-built generator, was proven to effectively degrade diclofenac in water matrices confirming the potential interest of this technology for wastewater treatment. The surface discharge was proven to be more effective in CECs removal due to the high rate of formation of H₂O₂, ozone, reactive radical species, and strong UV light emission. Furthermore, nitrates enriched water obtained after treatment could be an interesting added-value product to be used as fertilizer in agriculture. Acknowledgment: This project has received funding from the European Union’s Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant agreement No 765860.

Keywords: CECs removal, nitrogen fixation, non-thermal plasma, water treatment

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