16 research outputs found

    Ergebnis der selektiven Verpaarung beim Entlebucher Sennenhund zur Reduktion der ureteralen Ektopie

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    Outcome of selective mating in the Entlebucher Mountain Dog for reduction of ureteral ectopia The Entlebucher Mountain Dog is predisposed to ureteral ectopia and associated diseases of the urinary tract as well as the kidneys, which can have severe to lethal consequences. Due to the clustered occurrence of clinical signs in 11 % of Entlebucher Mountain dogs in the absence of a genetic test for ureteral ectopia, screening was introduced in 2008 to allow phenotype-based breeding selection. The ureteral orifices of the dogs are visualized by ultrasound and existing urinary retention or urinary incontinence is documented. The diagnostic findings were evaluated centrally with assignment to one of five phenotypes depending on the localization of the ureteral orifices and the renal and ureteral shape. Breeding approval and mating restrictions are the responsibility of the respective breeding associations and predominantly Entlebucher Mountain Dogs with extravesical ectopic ureters and/or clinical signs were excluded from breeding. The effect of phenotype-based selective mating on the incidence of ureteral ectopia and its clinical signs, as well as possible factors influencing the expression of the phenotype, were determined in the birth cohorts after the introduction of screening. Analysis of the data set of 1456 phenotyped Entlebucher Mountain Dogs showed, that at 11 % versus 5 %, males were more frequently assigned to the extravesical phenotype than females. The effect of phenotype-based breeding selection was examined in a subpopulation consisting of phenotyped parents and their offspring (n = 876). The prevalence of the extravesical phenotype decreased from 24 % in the 2005 to 2007 birth cohorts to 1,4 % in the 2015 to 2017 birth cohorts. Since 2015 almost no Entlebucher Mountain Dogs with incontinence, hydroureter or hydronephrosis have been recorded. It was feared that the additional selection measures to control ureteral ectopia in the small Entlebucher Mountain Dog population would intensify the inbreeding increase. However, this has so far remained absent. Therefore, as long as no genetic test is available, it is recommended to continue phenotype-based breeding selection with exclusion of dogs with extravesical ureteral ectopia and/or hydroureter/hydronephrosis/urinary incontinence, while keeping an eye on the development of the inbreeding coefficient. Keywords: Ectopic ureter, Dog, Inbreeding, Phenotype, Breeding selection Deutsch Ergebnis der selektiven Verpaarung beim Entlebucher Sennenhund zur Reduktion der ureteralen Ektopie Der Entlebucher Sennenhund ist prädisponiert für die ureterale Ektopie und damit für assoziierte Erkrankungen der Harnwege sowie der Nieren, was schwerwiegende bis letale Folgen haben kann. Aufgrund des gehäuften Auftretens klinischer Symptome bei 11 % der Entlebucher Sennenhunde wurde in Ermangelung eines Gentests auf ureterale Ektopie 2008 ein Screening eingeführt, um eine Phänotyp-basierte Zuchtselektion zu ermöglichen. Die Uretermündungen der Hunde werden in der Regel mittels Ultraschall lokalisiert und bestehender Harnrückstau oder Harninkontinenz wird dokumentiert. Die Befundung erfolgte zentral mit einer Zuordnung zu einem von fünf Phänotypen in Abhängigkeit von der Lokalisation der Uretermündungen sowie der Nieren – und Ureterengestalt. Die Zuchtzulassung und Verpaarungsbeschränkungen obliegen den jeweiligen Zuchtverbänden, wobei überwiegend Entlebucher Sennenhunde mit extravesikal ektopischen Ureteren und/oder klinischen Symptomen von der Zucht ausgeschlossen wurden. Die Auswirkung der Phänotyp-basierten selektiven Verpaarung auf das Auftreten der ureteralen Ektopie und deren klinischen Symptome sowie mögliche Einflussfaktoren auf die Ausprägung des Phänotyps wurden in den Geburtsjahren nach Einführung des Screenings ermittelt. Die Analyse des Datensatzes mit 1456 phänotypisierten Entlebucher Sennenhunden zeigte, dass mit 11 % versus 5 % Rüden häufiger als Hündinnen dem extravesikalen Phänotyp zugeteilt wurden. Die Auswirkung der Phänotyp-basierten Zuchtselektion wurde an einer Teilpopulation, bestehend aus phänotypisierten Elterntieren und ihren Nachkommen (n = 876), untersucht. Die Prävalenz des extravesikalen Phänotyps nahm von 24 % bei den Geburtsjahren 2005 bis 2007 auf 1,4 % bei den Geburtsjahren 2015 bis 2017 ab. Seit 2015 wurden nahezu keine Entlebucher Sennenhunde mehr mit Inkontinenz, Hydroureter oder Hydronephrose erfasst. Befürchtet wurde, dass die zusätzlichen Selektionsmassnahmen zur Bekämpfung der ureteralen Ektopie in der kleinen Entlebucher Sennenhundepopulation den Inzuchtanstieg verstärken würde. Dies blieb bisher jedoch aus. Daher wird, solange kein genetischer Test zur Verfügung steht, empfohlen, die Phänotyp-basierte Zuchtselektion mit Ausschluss von Hunden mit extravesikaler ureteraler Ektopie und/oder Hydroureter/Hydronephrose/Harninkontinenz vorerst weiterzuführen und gleichzeitig die Entwicklung des Inzuchtkoeffizienten im Auge zu behalten. Schlüsselwörter: Ektopischer Ureter, Hund, Inzucht, Phänotyp, Zuchtselektion Français Résultat de l’accouplement sélectif chez le bouvier de l’Entlebuch pour réduire l’ectopie urétérale Le Bouvier de l’Entlebuch est prédisposé à l’ectopie urétérale et aux maladies associées des voies urinaires ainsi que des reins, ce qui peut entraîner des conséquences fatales. En raison de l’apparition de signes cliniques chez 11 % des chiens et en l’absence d’un test génétique pour l’ectopie urétérale, un dépistage a été introduit en 2008 pour permettre une sélection d’élevage basée sur le phénotype. Les orifices urétraux des chiens ont été visualisés par échographie et la rétention ou l’incontinence urinaire existante documentée. Les résultats du diagnostic ont été évalués de manière centralisée avec attribution à l’un des cinq phénotypes en fonction de la localisation des orifices urétéraux ainsi que de la forme des reins et des uretères. L’approbation pour la reproduction et les restrictions d’accouplement relèvent de la responsabilité des associations d’élevage respectives et les bouviers de l’Entlebuch présentant des uretères ectopiques extravésicaux et/ou des signes cliniques ont majoritairement été exclus de la reproduction. L’effet de cet accouplement sélectif basé sur le phénotype sur l’incidence de l’ectopie urétérale et de ses signes cliniques ainsi que les facteurs possibles influençant l’expression du phénotype ont été déterminés dans les cohortes de naissance après l’introduction du dépistage. L’analyse de l’ensemble des données de 1456 Bouviers de l’Entlebuch phénotypés a montré que, à 11 % contre 5 %, les mâles étaient plus fréquemment affectés au phénotype extravésical que les femelles. L’effet de la sélection d’élevage basée sur le phénotype a été examiné dans une sous-population composée de parents phénotypés et de leur progéniture (n = 876). La prévalence du phénotype extravésical est passée de 24 % dans les cohortes de naissance de 2005 à 2007 à 1,4 % dans les cohortes de naissance de 2015 à 2017. Depuis 2015, presque aucun bouvier d’Entlebuch présentant une incontinence, un hydrouretère ou une hydronéphrose n’a été enregistré. Une possible augmentation de la consanguinité due aux mesures de sélection supplémentaires visant à contrôler l’ectopie urétérale ne s’est pas produite. Par conséquent, tant qu’aucun test génétique n’est disponible, il est recommandé de poursuivre la sélection d’élevage basée sur le phénotype avec exclusion des chiens présentant une ectopie urétérale extravésicale et/ou une hydrouretère/hydronéphrose/incontinence urinaire, tout en surveillant l’évolution du coefficient de consanguinité. Mots-clés: auretère ectopique, chien, consanguinité, phénotype, sélection d’élevage Italiano Risultato dell'accoppiamento selettivo nel cane da montagna Entlebuch per ridurre l'ectopia ureterale Il bovaro dell’Entlebuch è predisposto all’ectopia ureterale e quindi alle malattie che sono correlate al tratto urinario e renale con possibili conseguenze letali. A causa della frequente comparsa di segni clinici nell’11 % dei cani e in assenza di un test genetico per l’ectopia ureterale, nel 2008 è stato introdotto uno screening per consentire la selezione fenotipica dei riproduttori. Gli orifizi ureterali dei cani sono solitamente localizzato tramite ecografia e viene documentata la presenza di ritenzione o incontinenza urinaria. I risultati sono stati valutati in modo centralizzato e si è assegnato il risultato a uno dei cinque fenotipi a seconda della localizzazione degli orifizi ureterali e della forma dei reni e degli ureteri. L’autorizzazione all’allevamento e le restrizioni all’accoppiamento sono di competenza delle rispettive associazioni di allevatori e i bovari dell’Entlebuch con ureteri ectopici extravescicali e/o con segni clinici sono stati prevalentemente esclusi dalla riproduzione. L’effetto dell’accoppiamento selettivo, basato sul fenotipo per rapporto all’incidenza dell’ectopia ureterale e dei suoi segni clinici, nonché dei possibili fattori che influenzano l’espressione del fenotipo, è stato determinato nelle coorti di nascita dopo l’introduzione dello screening. L’analisi del set di dati di 1456 bovari dell’Entlebuch fenotipizzati ha dimostrato che, con una percentuale dell’11 % rispetto al 5 %, i maschi erano più frequentemente assegnati al fenotipo extravescicale rispetto alle femmine. L’effetto della selezione riproduttiva basata sul fenotipo è stato esaminato in una subpopolazione composta da genitori fenotipizzati e dalla loro discendenza (n = 876). La prevalenza del fenotipo extravescicale è diminuita dal 24 % nelle coorti di nascita dal 2005 al 2007 all’1,4 % nelle coorti di nascita dal 2015 al 2017. Dal 2015 non sono stati registrati quasi più bovari dell’Entlebuch con incontinenza, idrouretere o idronefrosi. Non si è riscontrato un possibile aumento della consanguineità dovuto alle misure di selezione aggiuntive per controllare l’ectopia ureterale. Pertanto, finché non è disponibile un test genetico, si raccomanda di continuare la selezione fenotipica con l’esclusione dei cani con ectopia ureterale extravescicale e/o idrouretere/idronefrosi/incontinenza urinaria, facendo particolare attenzione all’andamento del coefficiente di consanguineità. Parole chiavi: Uretere ectopico, cane, consanguineità, fenotipo, selezione riproduttiv

    Mitochondrial physiology

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    As the knowledge base and importance of mitochondrial physiology to evolution, health and disease expands, the necessity for harmonizing the terminology concerning mitochondrial respiratory states and rates has become increasingly apparent. The chemiosmotic theory establishes the mechanism of energy transformation and coupling in oxidative phosphorylation. The unifying concept of the protonmotive force provides the framework for developing a consistent theoretical foundation of mitochondrial physiology and bioenergetics. We follow the latest SI guidelines and those of the International Union of Pure and Applied Chemistry (IUPAC) on terminology in physical chemistry, extended by considerations of open systems and thermodynamics of irreversible processes. The concept-driven constructive terminology incorporates the meaning of each quantity and aligns concepts and symbols with the nomenclature of classical bioenergetics. We endeavour to provide a balanced view of mitochondrial respiratory control and a critical discussion on reporting data of mitochondrial respiration in terms of metabolic flows and fluxes. Uniform standards for evaluation of respiratory states and rates will ultimately contribute to reproducibility between laboratories and thus support the development of data repositories of mitochondrial respiratory function in species, tissues, and cells. Clarity of concept and consistency of nomenclature facilitate effective transdisciplinary communication, education, and ultimately further discovery

    Mitochondrial physiology

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    As the knowledge base and importance of mitochondrial physiology to evolution, health and disease expands, the necessity for harmonizing the terminology concerning mitochondrial respiratory states and rates has become increasingly apparent. The chemiosmotic theory establishes the mechanism of energy transformation and coupling in oxidative phosphorylation. The unifying concept of the protonmotive force provides the framework for developing a consistent theoretical foundation of mitochondrial physiology and bioenergetics. We follow the latest SI guidelines and those of the International Union of Pure and Applied Chemistry (IUPAC) on terminology in physical chemistry, extended by considerations of open systems and thermodynamics of irreversible processes. The concept-driven constructive terminology incorporates the meaning of each quantity and aligns concepts and symbols with the nomenclature of classical bioenergetics. We endeavour to provide a balanced view of mitochondrial respiratory control and a critical discussion on reporting data of mitochondrial respiration in terms of metabolic flows and fluxes. Uniform standards for evaluation of respiratory states and rates will ultimately contribute to reproducibility between laboratories and thus support the development of data repositories of mitochondrial respiratory function in species, tissues, and cells. Clarity of concept and consistency of nomenclature facilitate effective transdisciplinary communication, education, and ultimately further discovery

    Does Patent Strategy Shape the Long-Run Supply of Public Knowledge? Evidence from Human Genetics

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    Exploring Posttraumatic Stress Symptoms and Posttraumatic Growth among Children Living beyond Cancer and Their Parents Using an Actor–Partner Interdependence Model

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    There is a growing focus on describing both negative and positive outcomes in the wake of childhood cancer. The purpose of this study was to describe and explore the relationships between posttraumatic stress symptoms (PTSS) and posttraumatic growth (PTG) among children living beyond cancer and one of their parents. As part of a larger online survey, 113 children (Mage at time of study = 15.82 (SD = 4.81); Mage at diagnosis = 5.86 (SD = 4.66)) and one of their parents completed questionnaires assessing PTSS and PTG. Descriptive statistics were used to describe the sample and levels of PTSS and PTG. Data were z-transformed and analyzed using bivariate correlations and t-tests. An actor–partner interdependence model (APIM) was used to test whether children’s and their parents’ PTSS was associated with their own PTG (actor effect) and the others’ PTG (partner effect). PTSS was low and PTG was moderate in this sample relative to scale ranges. There were no significant differences between the children’s and their parents’ PTSS (p = 0.535) or PTG (p = 0.534). Results from the APIM showed no significant actor effects (p = 0.185). A significant overall partner effect (p = 0.020) emerged. Lower PTSS for children was associated with greater PTG for their parents (b = −0.29, p = 0.018), but parent’s PTSS was not associated with children’s PTG (p = 0.434). This sample reported similar levels of PTSS and PTG to that which has been reported in the literature. Children and their parents’ scores on PTSS and PTG measures were not significantly different from one another. Children’s PTSS was negatively associated with their parents PTG, illuminating the ways in which PTSS and PTG may be related in the context of childhood cancer. Exploring family-based strategies to reduce PTSS and enhance PTG may be warranted, though further studies are required

    Modelling the transportation of primary aggregates in England and Wales: exploring initiatives to reduce CO2 emissions

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    Millions of tonnes of aggregates are transported across England and Wales each year, which causes constant concerns in regard to CO2 emissions. Much of that concern arises out of the long journeys from quarries to construction sites, and the fact that the main mode of transfer is by road. The aim of this paper is to describe the construction of a spatial decision support system (SDSS) to examine the impacts of scenarios to reduce the level of CO2 emissions. The SDSS is made up of a GIS containing a set of spatial models (including a spatial interaction model and a microsimulation model) underpinned by a detailed transport network of road and rail routes across England and Wales. The spatial interaction models are first calibrated to reproduce the existing set of flows of aggregates between quarries and local authority districts. The distance decay component is the travel distance equivalent across the road and rail networks. Based on these flows, linear models can be set up to estimate the amount of CO2 emissions associated with the existing set of flows. Then a series of what-if scenarios are set up which look at how changes in any part of the geography of production, the level of demand in certain areas or the transport process will impact the CO2 emissions. The paper demonstrates the capability of the SDSS in responding to the various spatial policies applied in different stages of the supply chain of the aggregates markets
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