New understandings of the genetic basis of isolated idiopathic central hypogonadism

Idiopathic hypogonadotropic hypogonadism is a rare disease that is characterized by delayed/absent puberty and/or infertility due to an insufficient stimulation of an otherwise normal pituitary-gonadal axis by gonadotrophin-releasing hormone (GnRH) action. Because reduced or normal luteinizing hormone (LH)/follicle-stimulating hormone (FSH) levels may be observed in the affected patients, the term idiopathic central hypogonadism (ICH) appears to be more appropriate. This disease should be distinguished from central hypogonadism that is combined with other pituitary deficiencies. Isolated ICH has a complex pathogenesis and is fivefold more prevalent in males. ICH frequently appears in a sporadic form, but several familial cases have also been reported. This finding, in conjunction with the description of numerous pathogenetic gene variants and the generation of several knockout models, supports the existence of a strong genetic component. ICH may be associated with several morphogenetic abnormalities, which include osmic defects that, with ICH, constitute the cardinal manifestations of Kallmann syndrome (KS). KS accounts for approximately 40% of the total ICH cases and has been generally considered to be a distinct subgroup. However, the description of several pedigrees, which include relatives who are affected either with isolated osmic defects, KS, or normo-osmic ICH (nICH), justifies the emerging idea that ICH is a complex genetic disease that is characterized by variable expressivity and penetrance. In this context, either multiple gene variants or environmental factors and epigenetic modifications may contribute to the variable disease manifestations. We review the genetic mechanisms that are presently known to be involved in ICH pathogenesis and provide a clinical overview of the 227 cases that have been collected by the collaborating centres of the Italian ICH Network

The Hi-GAL compact source catalogue – I. The physical properties of the clumps in the inner Galaxy (−71. ◦ 0 < ℓ < 67.◦ 0)

Hi-GAL (Herschel InfraRed Galactic Plane Survey) is a large-scale survey of the Galactic plane, performed with Herschel in five infrared continuum bands between 70 and 500 µm. We present a band-merged catalogue of spatially matched sources and their properties derived from fits to the spectral energy distributions (SEDs) and heliocentric distances, based on the photometric catalogues presented in Molinari et al., covering the portion of Galactic plane −71.◦ 0 < ℓ < 67.◦ 0. The band-merged catalogue contains 100 922 sources with a regular SED, 24 584 of which show a 70-µm counterpart and are thus considered protostellar, while the remainder are considered starless. Thanks to this huge number of sources, we are able to carry out a preliminary analysis of early stages of star formation, identifying the conditions that characterize different evolutionary phases on a statistically significant basis. We calculate surface densities to investigate the gravitational stability of clumps and their potential to form massive stars. We also explore evolutionary status metrics such as the dust temperature, luminosity and bolometric temperature, finding that these are higher in protostellar sources compared to pre-stellar ones. The surface density of sources follows an increasing trend as they evolve from pre-stellar to protostellar, but then it is found to decrease again in the majority of the most evolved clumps. Finally, we study the physical parameters of sources with respect to Galactic longitude and the association with spiral arms, finding only minor or no differences between the average evolutionary status of sources in the fourth and first Galactic quadrants, or between 'on-arm' and 'interarm' positions

Hi-GAL: The Herschel Infrared Galactic Plane Survey

Hi-GAL, the Herschel infrared Galactic Plane Survey, is an Open Time Key Project of the Herschel Space Observatory. It will make an unbiased photometric survey of the inner Galactic plane by mapping a 2° wide strip in the longitude range midlmid < 60° in five wavebands between 70 μm and 500 μm. The aim of Hi-GAL is to detect the earliest phases of the formation of molecular clouds and high-mass stars and to use the optimum combination of Herschel wavelength coverage, sensitivity, mapping strategy, and speed to deliver a homogeneous census of star-forming regions and cold structures in the interstellar medium. The resulting representative samples will yield the variation of source temperature, luminosity, mass and age in a wide range of Galactic environments at all scales from massive YSOs in protoclusters to entire spiral arms, providing an evolutionary sequence for the formation of intermediate and high-mass stars. This information is essential to the formulation of a predictive global model of the role of environment and feedback in regulating the star-formation process. Such a model is vital to understanding star formation on galactic scales and in the early universe. Hi-GAL will also provide a science legacy for decades to come with incalculable potential for systematic and serendipitous science in a wide range of astronomical fields, enabling the optimum use of future major facilities such as JWST and ALMA

Hi-GAL: The Herschel Infrared Galactic Plane Survey

Hi-GAL, the Herschel infrared Galactic Plane Survey, is an Open Time Key Project of the Herschel Space Observatory. It will make an unbiased photometric survey of the inner Galactic plane by mapping a 2° wide strip in the longitude range ∣l∣ < 60° in five wavebands between 70 μm and 500 μm. The aim of Hi-GAL is to detect the earliest phases of the formation of molecular clouds and high-mass stars and to use the optimum combination of Herschel wavelength coverage, sensitivity, mapping strategy, and speed to deliver a homogeneous census of star-forming regions and cold structures in the interstellar medium. The resulting representative samples will yield the variation of source temperature, luminosity, mass and age in a wide range of Galactic environments at all scales from massive YSOs in protoclusters to entire spiral arms, providing an evolutionary sequence for the formation of intermediate and high-mass stars. This information is essential to the formulation of a predictive global model of the role of environment and feedback in regulating the star-formation process. Such a model is vital to understanding star formation on galactic scales and in the early universe. Hi-GAL will also provide a science legacy for decades to come with incalculable potential for systematic and serendipitous science in a wide range of astronomical fields, enabling the optimum use of future major facilities such as JWST and ALMA

Méthode pour l'évaluation des données utilisées lors des expertises des digues fluviales

10èmes journées Fiabilité des Matériaux et des Structures, Bordeaux, FRA, 27-/03/2018 - 28/03/2018National audienceDuring a flood, failure of a river levee can have serious consequences in terms of human lives, economic and environmental losses. In this context, regulation of hydraulic structures safety has been enhanced since the decree of 11 December 2007. These regulations force the levee managers to perform periodic diagnoses and studies of dangers encouraging the assessment of levee. These diagnoses are carried out on the basis of data which can be tainted with imperfections (uncertainty, inaccuracy, incompleteness) leading to a variable quality of this information. The objective of this study is the elaboration of an approach for the assessment of the quality of the data used during the diagnoses of river dikes and for the proposal of corrective actions leading to an improvement of this quality. This approach is committed to be used as decision-making support for the levee managers, to establish a diagnose taking into account the quality of the information exploited.Lors d'une crue, la défaillance d'une digue fluviale est susceptible d'avoir des conséquences lourdes en termes de vies humaines, de pertes économiques et de dommages environnementales. Dans ce contexte, la réglementation sur la sécurité des ouvrages hydrauliques a été renforcée à partir du décret du 11/12/2007. Ces réglementations imposent aux gestionnaires la réalisation de diagnostics et d'étude de dangers encourageant l'évaluation des digues. Ces diagnostics sont menés sur la base de données qui peuvent être entachées d'imperfections conduisant in fine à une qualité variable de jugement de la performance de la digue. L'objectif de cette étude est l'élaboration d'une démarche pour l'évaluation de la qualité des données utilisées lors des diagnostics des digues et pour la proposition d'actions correctives. Cette démarche a pour vocation d'être utilisée comme aide à la décision par le gestionnaire, pour établir un diagnostic en étant conscient de la qualité des sources utilisées

Méthode pour l'évaluation des données utilisées lors des expertises des digues fluviales

10èmes journées Fiabilité des Matériaux et des Structures, Bordeaux, FRA, 27-/03/2018 - 28/03/2018National audienceDuring a flood, failure of a river levee can have serious consequences in terms of human lives, economic and environmental losses. In this context, regulation of hydraulic structures safety has been enhanced since the decree of 11 December 2007. These regulations force the levee managers to perform periodic diagnoses and studies of dangers encouraging the assessment of levee. These diagnoses are carried out on the basis of data which can be tainted with imperfections (uncertainty, inaccuracy, incompleteness) leading to a variable quality of this information. The objective of this study is the elaboration of an approach for the assessment of the quality of the data used during the diagnoses of river dikes and for the proposal of corrective actions leading to an improvement of this quality. This approach is committed to be used as decision-making support for the levee managers, to establish a diagnose taking into account the quality of the information exploited.Lors d'une crue, la défaillance d'une digue fluviale est susceptible d'avoir des conséquences lourdes en termes de vies humaines, de pertes économiques et de dommages environnementales. Dans ce contexte, la réglementation sur la sécurité des ouvrages hydrauliques a été renforcée à partir du décret du 11/12/2007. Ces réglementations imposent aux gestionnaires la réalisation de diagnostics et d'étude de dangers encourageant l'évaluation des digues. Ces diagnostics sont menés sur la base de données qui peuvent être entachées d'imperfections conduisant in fine à une qualité variable de jugement de la performance de la digue. L'objectif de cette étude est l'élaboration d'une démarche pour l'évaluation de la qualité des données utilisées lors des diagnostics des digues et pour la proposition d'actions correctives. Cette démarche a pour vocation d'être utilisée comme aide à la décision par le gestionnaire, pour établir un diagnostic en étant conscient de la qualité des sources utilisées

Dégradation des digues due à la présence d'infrastructures : recensement et classification des causes par la méthode des 5 M

35èmes Rencontres de l'AUGC, Nantes, FRA, 22-/05/2017 - 24/05/2017National audienceThe infrastructures of gas, water ... can generate degradations and thus a possible damage to the integrity and the durability of the dikes in which they are present. Our work deals with the influence of these networks on the performance of the dike that contains or supports them. At first, we identified the mechanisms of degradation of embankment's dikes that may result from a failure of an infrastructure, then we grouped the causes of these degradations for each of these mechanisms using the 5 M's method (Material, Manpower, Method, Environment, Matter). These causes are expressed in the form of data. Five degradation modes were addressed. A total of 28 data were produced, some of which are possibly involved in several modes of degradation.Les infrastructures de gaz, eau... peuvent générer des dégradations et donc une possible atteinte à l'intégrité et à la durabilité des digues dans lesquelles elles sont présentes. Notre travail porte sur l'influence de ces réseaux sur la performance de la digue qui les contient ou les supporte. Dans un premier temps, nous avons identifié les mécanismes de dégradation des digues en remblai pouvant provenir d'une défaillance d'une infrastructure puis nous avons regroupé les causes de ces dégradations, pour chacun de ces mécanismes, à l'aide de la méthode des 5 M (Matériel, Main d'oeuvre, Méthode, Milieu, Matière). Ces causes sont exprimées sous la forme de données. Cinq modes de dégradation ont été traités. Au total, 28 données ont été produites, dont certaines peuvent être impliquées dans plusieurs modes de dégradation

Dégradation des digues due à la présence d'infrastructures : recensement et classification des causes par la méthode des 5 M

35èmes Rencontres de l'AUGC, Nantes, FRA, 22-/05/2017 - 24/05/2017National audienceThe infrastructures of gas, water ... can generate degradations and thus a possible damage to the integrity and the durability of the dikes in which they are present. Our work deals with the influence of these networks on the performance of the dike that contains or supports them. At first, we identified the mechanisms of degradation of embankment's dikes that may result from a failure of an infrastructure, then we grouped the causes of these degradations for each of these mechanisms using the 5 M's method (Material, Manpower, Method, Environment, Matter). These causes are expressed in the form of data. Five degradation modes were addressed. A total of 28 data were produced, some of which are possibly involved in several modes of degradation.Les infrastructures de gaz, eau... peuvent générer des dégradations et donc une possible atteinte à l'intégrité et à la durabilité des digues dans lesquelles elles sont présentes. Notre travail porte sur l'influence de ces réseaux sur la performance de la digue qui les contient ou les supporte. Dans un premier temps, nous avons identifié les mécanismes de dégradation des digues en remblai pouvant provenir d'une défaillance d'une infrastructure puis nous avons regroupé les causes de ces dégradations, pour chacun de ces mécanismes, à l'aide de la méthode des 5 M (Matériel, Main d'oeuvre, Méthode, Milieu, Matière). Ces causes sont exprimées sous la forme de données. Cinq modes de dégradation ont été traités. Au total, 28 données ont été produites, dont certaines peuvent être impliquées dans plusieurs modes de dégradation

Dégradation des digues due à la présence d'infrastructures : recensement et classification des causes par la méthode des 5 M

35èmes Rencontres de l'AUGC, Nantes, FRA, 22-/05/2017 - 24/05/2017National audienceThe infrastructures of gas, water ... can generate degradations and thus a possible damage to the integrity and the durability of the dikes in which they are present. Our work deals with the influence of these networks on the performance of the dike that contains or supports them. At first, we identified the mechanisms of degradation of embankment's dikes that may result from a failure of an infrastructure, then we grouped the causes of these degradations for each of these mechanisms using the 5 M's method (Material, Manpower, Method, Environment, Matter). These causes are expressed in the form of data. Five degradation modes were addressed. A total of 28 data were produced, some of which are possibly involved in several modes of degradation.Les infrastructures de gaz, eau... peuvent générer des dégradations et donc une possible atteinte à l'intégrité et à la durabilité des digues dans lesquelles elles sont présentes. Notre travail porte sur l'influence de ces réseaux sur la performance de la digue qui les contient ou les supporte. Dans un premier temps, nous avons identifié les mécanismes de dégradation des digues en remblai pouvant provenir d'une défaillance d'une infrastructure puis nous avons regroupé les causes de ces dégradations, pour chacun de ces mécanismes, à l'aide de la méthode des 5 M (Matériel, Main d'oeuvre, Méthode, Milieu, Matière). Ces causes sont exprimées sous la forme de données. Cinq modes de dégradation ont été traités. Au total, 28 données ont été produites, dont certaines peuvent être impliquées dans plusieurs modes de dégradation