Biallelic mutation of Protocadherin-21 (PCDH21) causes retinal degeneration in humans

PurposeTo describe the clinical findings and mutations in affected members of two families with an autosomal recessive retinal dystrophy associated with mutations in the protocadherin-21 (PCDH21) gene.MethodsA full genome scan of members of two consanguineous families segregating an autosomal recessive retinal dystrophy was performed and regions identical by descent identified. Positional candidate genes were identified and sequenced. All patients had a detailed ophthalmic examination, including electroretinography and retinal imaging.ResultsAffected members of both families showed identical homozygosity for an overlapping region of chromosome 10q. Sequencing of a candidate gene, PCDH21, showed two separate homozygous single-base deletions, c.337delG (p.G113AfsX1) and c.1459delG (p.G487GfsX20), which were not detected in 282 control chromosomes. Affected members of the two families first reported nyctalopia in late teenage years and retained good central vision until their late 30s. No color vision was detected in any proband. The fundus appearance included the later development of characteristic circular patches of pigment epithelial atrophy at the macula and in the peripheral retina.ConclusionsBiallelic mutations in the photoreceptor-specific gene PCDH21 cause recessive retinal degeneration in humans

Life in Health 2019: Research and Practice

This proceedings contains a selection of papers from the internacional interdisciplinary conference Life in Health 2019, which took place from 5 to 6 September 2019 in the Czech Republic at the Faculty of Education, Masaryk University. The papers focus on general as well as specific approaches to public health protection and promotion. The findings presented are based on research data and are applicable in health education and general education of children and the whole population

Experimental study and modeling of an air-breathing micro fuel cell

La micropile à combustible à respiration est développée conjointement à STMicroelectronics Tours et au CEA Liten de Grenoble. De très faible puissance (stack de 1W), elle sera à moyen terme utilisée dans un système de recharge portable pour petites batteries Li-Ion (téléphones portables). Le fonctionnement et la structure de ces micropiles sont tels qu'elles sont très sensibles, entre autres, aux conditions atmosphériques caractérisant leur environnement. Cette sensibilité résulte en un comportement électrique très marqué et complexe. Or, l'aspect nomade de l'application fait que celle-ci devra pouvoir faire face à des atmosphères diverses et variées. Il est donc nécessaire de comprendre les interactions liant le comportement électrique de la micropile et l'environnement. Leur modélisation pourra par la suite apporter des éléments concrets en termes de pilotage d'auxiliaires (micro ventilateurs…) et de design de packaging, visant à contrôler l'environnement immédiat de la micropile de la meilleure façon possible. A cet effet, de nombreuses mesures, réalisées sous atmosphère maîtrisée, et sous plusieurs régimes de fonctionnement électrique, ont été croisées entre elles. Elles nous ont permis de poser les hypothèses d'un modèle quasistatique macroscopique de la micropile, reliant les conditions atmosphériques et opératoires à la réponse électrique de la micropile. Ce modèle a été développé à partir de la théorie de la diffusion en milieu poreux. Ce modèle quasistatique, faisant intervenir une description de la diffusion protonique cathodique, permet de représenter le comportement de la micropile sur une large gamme de conditions atmosphériques, et illustre physiquement autant les situations d'assèchement que de noyage. L’approche a ensuite été élargie au développement d'un modèle petit signal, paramétré grâce à une approche multi spectrale et multi conditions opératoires. Celui-ci permet entre autres de quantifier la dynamique associée au phénomène de diffusion protonique, tout en consolidant sa description quasistatique, ceci faisant intervenir des paramètres cohérents avec ceux du modèle quasistatique. Enfin, à la croisée des approches quasistatique et petit signal, les bases d'un modèle dynamique fort signal sont proposées. Elles font intervenir le modèle fort signal propre au LAPLACE, en y injectant la réponse dynamique à l'environnement et à la sollicitation électrique du bilan hydrique. Ce modèle, paramétré avec les paramètres issus du quasistatique et du petit signal, permet de représenter le comportement non linéaire de la micropile sur une large gamme de fréquences de sollicitations galvanostatiques fort signal.The micro breathing fuel cell is developed by STMicroelectronics Tours and the CEA Liten of Grenoble. It is very low power (1W stack) and will eventually be used in a portable charging system for small Li-Ion batteries (cell phones). The structure of these micro fuel cells is such that they are very sensitive, among other things, to weather conditions characterizing their environment. This sensitivity results in a very complex electrical behavior. But the portable aspect of the application implies that it will have to cope with various atmospheres. It is therefore necessary to understand the interactions linking the electrical behavior of the micro fuel cell and the atmosphere. A model may then provide some concrete leads in terms of auxiliary control (micro fans ...) and packaging design, to control the immediate environment of the microcell in the best possible way. To this end, a lot of measure were carried out under controlled atmosphere, and in several electrical operating modes, and were crossed with each other. They let us build the assumptions for a macroscopic steady state model of micro fuel cell, linking atmospheric and operating conditions to the electrical response of the micro fuel cell. This model was inspired by the theory of diffusion in porous media. This steady state model, involving a description of a cathodic protonic diffusion, is used to represent the behavior of the micro fuel cell on a wide range of atmospheric conditions, and physically illustrates both drying out situations than drowning. The approach was then extended to develop a small signal model, configured with a multi spectral and multi-operating conditions approach. It allows among other things to quantify the dynamics associated with the phenomenon of proton diffusion, while consolidating its steady state description, this involving parameters consistent with those of the steady state model. Finally, at the intersection of the steady state and small signal approaches, the bases for a large signal dynamic model are proposed. They involve the large signal model which is specific to the LAPLACE, by injecting in it the dynamic response to environmental stress and to water balance. This model, with parameters set from the steady state and small signal models, turns out to be able to represent the nonlinear behavior of the micro fuel cell over a wide range of frequencies of the galvanostatic strong signal solicitatio

Etude expérimentale et modélisation d'une micropile à combustible à respiration

The micro breathing fuel cell is developed by STMicroelectronics Tours and the CEA Liten of Grenoble. It is very low power (1W stack) and will eventually be used in a portable charging system for small Li-Ion batteries (cell phones). The structure of these micro fuel cells is such that they are very sensitive, among other things, to weather conditions characterizing their environment. This sensitivity results in a very complex electrical behavior. But the portable aspect of the application implies that it will have to cope with various atmospheres. It is therefore necessary to understand the interactions linking the electrical behavior of the micro fuel cell and the atmosphere. A model may then provide some concrete leads in terms of auxiliary control (micro fans ...) and packaging design, to control the immediate environment of the microcell in the best possible way. To this end, a lot of measure were carried out under controlled atmosphere, and in several electrical operating modes, and were crossed with each other. They let us build the assumptions for a macroscopic steady state model of micro fuel cell, linking atmospheric and operating conditions to the electrical response of the micro fuel cell. This model was inspired by the theory of diffusion in porous media. This steady state model, involving a description of a cathodic protonic diffusion, is used to represent the behavior of the micro fuel cell on a wide range of atmospheric conditions, and physically illustrates both drying out situations than drowning. The approach was then extended to develop a small signal model, configured with a multi spectral and multi-operating conditions approach. It allows among other things to quantify the dynamics associated with the phenomenon of proton diffusion, while consolidating its steady state description, this involving parameters consistent with those of the steady state model. Finally, at the intersection of the steady state and small signal approaches, the bases for a large signal dynamic model are proposed. They involve the large signal model which is specific to the LAPLACE, by injecting in it the dynamic response to environmental stress and to water balance. This model, with parameters set from the steady state and small signal models, turns out to be able to represent the nonlinear behavior of the micro fuel cell over a wide range of frequencies of the galvanostatic strong signal solicitation.La micropile à combustible à respiration est développée conjointement à STMicroelectronics Tours et au CEA Liten de Grenoble. De très faible puissance (stack de 1W), elle sera à moyen terme utilisée dans un système de recharge portable pour petites batteries Li-Ion (téléphones portables). Le fonctionnement et la structure de ces micropiles sont tels qu'elles sont très sensibles, entre autres, aux conditions atmosphériques caractérisant leur environnement. Cette sensibilité résulte en un comportement électrique très marqué et complexe. Or, l'aspect nomade de l'application fait que celle-ci devra pouvoir faire face à des atmosphères diverses et variées. Il est donc nécessaire de comprendre les interactions liant le comportement électrique de la micropile et l'environnement. Leur modélisation pourra par la suite apporter des éléments concrets en termes de pilotage d'auxiliaires (micro ventilateurs...) et de design de packaging, visant à contrôler l'environnement immédiat de la micropile de la meilleure façon possible. A cet effet, de nombreuses mesures, réalisées sous atmosphère maîtrisée, et sous plusieurs régimes de fonctionnement électrique, ont été croisées entre elles. Elles nous ont permis de poser les hypothèses d'un modèle quasistatique macroscopique de la micropile, reliant les conditions atmosphériques et opératoires à la réponse électrique de la micropile. Ce modèle a été développé à partir de la théorie de la diffusion en milieu poreux. Ce modèle quasistatique, faisant intervenir une description de la diffusion protonique cathodique, permet de représenter le comportement de la micropile sur une large gamme de conditions atmosphériques, et illustre physiquement autant les situations d'assèchement que de noyage. L'approche a ensuite été élargie au développement d'un modèle petit signal, paramétré grâce à une approche multi spectrale et multi conditions opératoires. Celui-ci permet entre autres de quantifier la dynamique associée au phénomène de diffusion protonique, tout en consolidant sa description quasistatique, ceci faisant intervenir des paramètres cohérents avec ceux du modèle quasistatique. Enfin, à la croisée des approches quasistatique et petit signal, les bases d'un modèle dynamique fort signal sont proposées. Elles font intervenir le modèle fort signal propre au LAPLACE, en y injectant la réponse dynamique à l'environnement et à la sollicitation électrique du bilan hydrique. Ce modèle, paramétré avec les paramètres issus du quasistatique et du petit signal, permet de représenter le comportement non linéaire de la micropile sur une large gamme de fréquences de sollicitations galvanostatiques fort signal

Étude expérimentale et modélisation d'une micropile à combustible à respiration

La micropile à combustible à respiration est développée conjointement à STMicroelectronics Tours et au CEA Liten de Grenoble. De très faible puissance (stack de 1W), elle sera à moyen terme utilisée dans un système de recharge portable pour petites batteries Li-Ion (téléphones portables). Le fonctionnement et la structure de ces micropiles sont tels qu'elles sont très sensibles, entre autres, aux conditions atmosphériques caractérisant leur environnement. Cette sensibilité résulte en un comportement électrique très marqué et complexe. Or, l'aspect nomade de l'application fait que celle-ci devra pouvoir faire face à des atmosphères diverses et variées. Il est donc nécessaire de comprendre les interactions liant le comportement électrique de la micropile et l'environnement. Leur modélisation pourra par la suite apporter des éléments concrets en termes de pilotage d'auxiliaires (micro ventilateurs ) et de design de packaging, visant à contrôler l'environnement immédiat de la micropile de la meilleure façon possible. A cet effet, de nombreuses mesures, réalisées sous atmosphère maîtrisée, et sous plusieurs régimes de fonctionnement électrique, ont été croisées entre elles. Elles nous ont permis de poser les hypothèses d'un modèle quasistatique macroscopique de la micropile, reliant les conditions atmosphériques et opératoires à la réponse électrique de la micropile. Ce modèle a été développé à partir de la théorie de la diffusion en milieu poreux. Ce modèle quasistatique, faisant intervenir une description de la diffusion protonique cathodique, permet de représenter le comportement de la micropile sur une large gamme de conditions atmosphériques, et illustre physiquement autant les situations d'assèchement que de noyage. L approche a ensuite été élargie au développement d'un modèle petit signal, paramétré grâce à une approche multi spectrale et multi conditions opératoires. Celui-ci permet entre autres de quantifier la dynamique associée au phénomène de diffusion protonique, tout en consolidant sa description quasistatique, ceci faisant intervenir des paramètres cohérents avec ceux du modèle quasistatique. Enfin, à la croisée des approches quasistatique et petit signal, les bases d'un modèle dynamique fort signal sont proposées. Elles font intervenir le modèle fort signal propre au LAPLACE, en y injectant la réponse dynamique à l'environnement et à la sollicitation électrique du bilan hydrique. Ce modèle, paramétré avec les paramètres issus du quasistatique et du petit signal, permet de représenter le comportement non linéaire de la micropile sur une large gamme de fréquences de sollicitations galvanostatiques fort signal.The micro breathing fuel cell is developed by STMicroelectronics Tours and the CEA Liten of Grenoble. It is very low power (1W stack) and will eventually be used in a portable charging system for small Li-Ion batteries (cell phones). The structure of these micro fuel cells is such that they are very sensitive, among other things, to weather conditions characterizing their environment. This sensitivity results in a very complex electrical behavior. But the portable aspect of the application implies that it will have to cope with various atmospheres. It is therefore necessary to understand the interactions linking the electrical behavior of the micro fuel cell and the atmosphere. A model may then provide some concrete leads in terms of auxiliary control (micro fans ...) and packaging design, to control the immediate environment of the microcell in the best possible way. To this end, a lot of measure were carried out under controlled atmosphere, and in several electrical operating modes, and were crossed with each other. They let us build the assumptions for a macroscopic steady state model of micro fuel cell, linking atmospheric and operating conditions to the electrical response of the micro fuel cell. This model was inspired by the theory of diffusion in porous media. This steady state model, involving a description of a cathodic protonic diffusion, is used to represent the behavior of the micro fuel cell on a wide range of atmospheric conditions, and physically illustrates both drying out situations than drowning. The approach was then extended to develop a small signal model, configured with a multi spectral and multi-operating conditions approach. It allows among other things to quantify the dynamics associated with the phenomenon of proton diffusion, while consolidating its steady state description, this involving parameters consistent with those of the steady state model. Finally, at the intersection of the steady state and small signal approaches, the bases for a large signal dynamic model are proposed. They involve the large signal model which is specific to the LAPLACE, by injecting in it the dynamic response to environmental stress and to water balance. This model, with parameters set from the steady state and small signal models, turns out to be able to represent the nonlinear behavior of the micro fuel cell over a wide range of frequencies of the galvanostatic strong signal solicitationTOULOUSE-INP (315552154) / SudocSudocFranceF

Comparing cigarette smoking knowledge and attitudes among smokers and non-smokers

International audienceSmoking prevalence in Lebanon was reported by the World Health Organization to be 43%, which is among the highest rates in the Arab nation. The objectives of this study were to assess cigarette smoking knowledge and attitude among smokers and non-smokers using validated scales in the Lebanese general population and evaluate their association with current cigarette smoking; a secondary objective is to assess the dose effect relationship of knowledge and attitude with cumulative smoking. This cross-sectional took place between May and December 2018, and enrolled a sample of 2623 participants, representative from all Lebanese governorates. A questionnaire about knowledge of the harmful effects of tobacco and attitude toward smoking bans retrieved from other studies was used to collect data. Male gender (ORa = 0.75), having a low monthly income (ORa = 1.56) and a higher passive smoking score (ORa = 1.25), were significantly associated with higher odds of being current smokers. Higher knowledge score (ORa = 0.97) and positive attitude toward smoking ban score (ORa = 0.94) were significantly associated with lower odds of being current smokers. In addition, increased age (ß = 15.21) and higher passive smoking score (ß = 26.58) were significantly associated with higher cumulative cigarette smoking. More positive attitude toward smoking ban score (ß = - 6.51) and having a university degree (ß = - 68.35) were significantly associated with lower cumulative cigarette smoking. Higher knowledge about the smoking-related health problems and better attitudes toward smoking ban were observed among non-smokers compared to smokers. It is important to increase awareness campaigns and to propose effective interventions to put in place an adequate culture of smoking cessation among the general population

Differences in the Associations between Body Dissatisfaction and Eating Outcomes by Gender? A Lebanese Population Study

International audienceBackground: The objective of this study was to evaluate the impact of the interaction between body dissatisfaction and gender on eating disorders (restrained eating, binge eating, orthorexia nervosa, and emotional eating) among a sample of Lebanese adults.Methods: This cross-sectional study, conducted between January and May 2018, enrolled 811 participants selected randomly from all Lebanese Mohafazat. The mean age of the participants was 27.6±11.8 years. The majority were females (66.5%), had a high level of education (73.2%), and low income (77.9%). This study used the following scales: body dissatisfaction subscale of the Eating Disorder Inventory-second version, binge eating scale, Dutch restrained eating scale, orthorexia nervosa scale (ORTHO-15 scale), emotional eating scale, perceived stress scale, Hamilton Anxiety Rating Scale, and Hamilton Depression Rating Scale.Results: Body dissatisfaction was positively correlated to restrained eating (r=0.293, P<0.001), emotional eating (r=0.073, P=0.042) and binge eating (r=0.250, P<0.001). The interaction between body dissatisfaction and gender was significantly associated with more restrained eating (Beta=0.01, P<0.001) and orthorexia nervosa (Beta=-0.09, P<0.001), but not with emotional (Beta=-0.43, P=0.103) and binge eating (Beta=-0.08, P=0.358). When stratifying the analysis by gender, the results revealed that higher body dissatisfaction was significantly associated with more restrained eating in both genders, but particularly among women. Body dissatisfaction was significantly associated with higher emotional eating in men only and with higher orthorexia nervosa tendencies and behaviors in females only.Conclusion: The interaction between body dissatisfaction and gender was significantly associated with orthorexia nervosa and restrained eating but not with binge or emotional eating. Higher body dissatisfaction was significantly associated with higher restrained eating, more pronounced in women, while it was significantly associated with higher orthorexia tendencies (lower ORTO-15 scores) in women only. Body dissatisfaction was associated with emotional eating in men only