37 research outputs found

    Genetics of Growth Disorders-Which Patients Require Genetic Testing?

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    The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session entitled Pragmatism vs. Curiosity in Genetic Diagnosis of Growth Disorders, which examined current concepts of genetics and growth in the clinical setting, in terms of both growth failure and overgrowth. For patients with short stature, multiple genes have been identified that result in GH deficiency, which may be isolated or associated with additional pituitary hormone deficiencies, or in growth hormone resistance, primary insulin-like growth factor (IGF) acid-labile subunit deficiency, IGF-I deficiency, IGF-II deficiency, IGF-I resistance, and primary PAPP-A2 deficiency. While genetic causes of short stature were previously thought to primarily be associated with the GH-IGF-I axis, it is now established that multiple genetic anomalies not associated with the GH-IGF-I axis can result in short stature. A number of genetic anomalies have also been shown to be associated with overgrowth, some of which involve the GH-IGF-I axis. In patients with overgrowth in combination with an intellectual disability, two predominant gene families, the epigenetic regulator genes, and PI3K/AKT pathway genes, have now been identified. Specific processes should be followed for decisions on which patients require genetic testing and which genes should be examined for anomalies. The decision to carry out genetic testing should be directed by the clinical process, not merely for research purposes. The intention of genetic testing should be to direct the clinical options for management of the growth disorder

    Long-term effects and cost-benefit analysis of eight spawning gravel augmentations for Atlantic salmon and Brown trout in Norway

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    River regulation alters flow and sediment regime, habitat availability, and ultimately the ecological functioning of rivers. Various restoration and mitigation measures have been developed to improve ecological function, and among them is the addition of gravel to enhance the reproduction of gravel bed spawning fishes. However, information on long-term efficiency, costs, and maintenance needs of gravel additions are scarce. Here, we study the functioning of gravel additions at eight sites in three rivers in western Norway for up to 18 years. Gravel was added between 2002 and 2010 to enhance spawning of Atlantic salmon and anadromous Brown trout. We monitored changes in the size of the gravel-covered areas, sediment composition, interstitial oxygen, egg survival, and juvenile fish densities. Additionally, we report monetary costs, identify potential maintenance needs, and calculate a cost-benefit ratio. Juvenile densities of Atlantic salmon and Brown trout increased significantly after the gravel augmentations. After 10–18 years, the median egg survival was still high (> 90%) and sediment conditions were still suitable for salmonid fish reproduction. The areas were, however, shrinking across time (median area reduction 26%), mostly caused by scouring of gravel in the steep, supply-limited, and partly regulated rivers. The average construction costs of spawning gravel augmentations were 11.2 NOK (1.12 €) m−2 year−1. Compared to similar measures elsewhere, the measures have had a long life span (up to 18 years) at relatively low costs. Gravel augmentation was concluded to be a successful management measure that contributed to significantly increased Atlantic salmon and Brown trout reproduction.publishedVersio

    Tuberculosis Guideline for Adults

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    Since 2015 a significant increase in tuberculosis cases is notified in Germany, mostly due to rising numbers of migrants connected to the recent refugee crisis. Because of the low incidence in previous years, knowledge on tuberculosis is more and more limited to specialized centers. However, lung specialist and healthcare workers of other fields have contact to an increasing number of tuberculosis patients. In this situation, guidance for the management of standard therapy and especially for uncommon situations will be essential. This new guideline on tuberculosis in adults gives recommendations on diagnosis, treatment, prevention and prophylaxis. It provides a comprehensive overview over the current knowledge, adapted to the specific situation in Germany. The German Central Committee against Tuberculosis (DZK e.V.) realized this guideline on behalf of the German Respiratory Society (DGP). A specific guideline for tuberculosis in the pediatrics field will be published separately. Compared to the former recommendations of the year 2012, microbiological diagnostics and therapeutic drug management were given own sections. Chapters about the treatment of drug-resistant tuberculosis, tuberculosis in people living with HIV and pharmacological management were extended. This revised guideline aims to be a useful tool for practitioners and other health care providers to deal with the recent challenges of tuberculosis treatment in Germany
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