Effekte einer Lehrerfortbildung zur Förderung von Problemlösenlernen in Kombination mit Selbstregulation im Mathematikunterricht der Sekundarstufe I

Im Vortrag wurden ausgewählte Ergebnisse einer Lehrerfortbildung zum mathematischen Problemlösenlernen in Verbindung mit Selbstregulation vorgestellt. Im Mittelpunkt standen Ergebnisse von Stundenberichten und Arbeitsprodukten der Lehrkräfte. Die über mehrere Wochen dokumentierten Unterrichtsstunden und die von den Lehrkräften eingereichten Arbeitsprodukte weisen spezifische Fortbildungseffekte auf

Transforming Knowledge Orders: Museums, Collections and Exhibitions

The history of museums is closely connected not only with the history of collecting and collections, but also with the history of science and humanities. Collections and exhibitions reflect scientific theory and scholarly practice, and in turn shape them. Hence, museums transmit and disseminate, yet also produce knowledge. On the one hand, they visualise and stabilise orders of knowledge through assembling, classifying and fixing objects in exhibitions; on the other hand, new academic paradigms and political changes lead to rearrangements of facts and artefacts in museum storerooms and displays. This volume brings together case studies from various historical and cultural contexts that illuminate such dynamics. Its point of departure is transcultural collections and exhibitions such as cabinets of curiosities and ethnographic collections, whose attempts to inventorise and display the world testify to the desire for, but also the difficulties in establishing and maintaining orders of knowledge. A particular focus is on transformative moments in the history of museums, in particular on the early 1900s, when science and technology museums were established, and on more recent times, which have seen the refurbishment of numerous art and ethnographic museums

Genomic medicine without borders: which strategies should developing countries employ to invest in precision medicine? A new "fast-second winner" strategy

Genomic medicine has greatly matured in terms of its technical capabilities, but the diffusion of genomic innovations worldwide faces significant barriers beyond mere access to technology. New global development strategies are sorely needed for biotechnologies such as genomics and their applications toward precision medicine without borders. Moreover, diffusion of genomic medicine globally cannot adhere to a “one-size-fits-all-countries” development strategy, in the same way that drug treatments should be customized. This begs a timely, difficult but crucial question: How should developing countries, and the resource-limited regions of developed countries, invest in genomic medicine? Although a full-scale investment in infrastructure from discovery to the translational implementation of genomic science is ideal, this may not always be feasible in all countries at all times. A simple “transplantation of genomics” from developed to developing countries is unlikely to be feasible. Nor should developing countries be seen as simple recipients and beneficiaries of genomic medicine developed elsewhere because important advances in genomic medicine have materialized in developing countries as well. There are several noteworthy examples of genomic medicine success stories involving resource-limited settings that are contextualized and described in this global genomic medicine innovation analysis. In addition, we outline here a new long-term development strategy for global genomic medicine in a way that recognizes the individual country's pressing public health priorities and disease burdens. We term this approach the “Fast-Second Winner” model of innovation that supports innovation commencing not only “upstream” of discovery science but also “mid-stream,” building on emerging highly promising biomarker and diagnostic candidates from the global science discovery pipeline, based on the unique needs of each country. A mid-stream entry into innovation can enhance collective learning from other innovators' mistakes upstream in discovery science and boost the probability of success for translation and implementation when resources are limited. This à la carte model of global innovation and development strategy offers multiple entry points into the global genomics innovation ecosystem for developing countries, whether or not extensive and expensive discovery infrastructures are already in place. Ultimately, broadening our thinking beyond the linear model of innovation will help us to enable the vision and practice of genomics without borders in both developed and resource-limited settings

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Background and Objectives KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants.Methods We screened 893 individuals with developmental and epileptic encephalopathies for KCNH5 variants using targeted or exome sequencing. Additional individuals with KCNH5 variants were identified through an international collaboration. Clinical history, EEG, and imaging data were analyzed; seizure types and epilepsy syndromes were classified. We included 3 previously published individuals including additional phenotypic details.Results We report a cohort of 17 patients, including 9 with a recurrent de novo missense variant p.Arg327His, 4 with a recurrent missense variant p.Arg333His, and 4 additional novel missense variants. All variants were located in or near the functionally critical voltage-sensing or pore domains, absent in the general population, and classified as pathogenic or likely pathogenic using the American College of Medical Genetics and Genomics criteria. All individuals presented with epilepsy with a median seizure onset at 6 months. They had a wide range of seizure types, including focal and generalized seizures. Cognitive outcomes ranged from normal intellect to profound impairment. Individuals with the recurrent p.Arg333His variant had a self-limited drug-responsive focal or generalized epilepsy and normal intellect, whereas the recurrent p.Arg327His variant was associated with infantile-onset DEE. Two individuals with variants in the pore domain were more severely affected, with a neonatal-onset movement disorder, early-infantile DEE, profound disability, and childhood death.Discussion We describe a cohort of 17 individuals with pathogenic or likely pathogenic missense variants in the voltage-sensing and pore domains of Kv10.2, including 14 previously unreported individuals. We present evidence for a putative emerging genotype-phenotype correlation with a spectrum of epilepsy and cognitive outcomes. Overall, we expand the role of EAG proteins in human disease and establish KCNH5 as implicated in a spectrum of neurodevelopmental disorders and epilepsy.</p

Inhibiteurs de PCSK9

Le praticien connaît la difficulté à traiter certaines hypercholestérolémies, tant pour atteindre les taux cibles de LDL-cholestérol que pour éviter des effets secondaires. Les inhibiteurs de PCSK9 sur la liste des spécialités dès juillet 2017 sont une nouvelle option thérapeutique pour abaisser le LDL-cholestérol de moitié. Leur impact sur les événements cliniques et leur sécurité semblent favorables, selon les dernières études résumées ici

Herausforderungen für die Ernährungsmedizin der Zukunft ? Die neue GESKES-Strategie

Die Evidenz zur Früherkennung und individualisierten Behandlung der Mangelernährung war noch nie so gut belegt wie heute. Grosse randomisierte Studien belegen, dass eine individuelle Ernährungstherapie Leben retten, Komplikationen vermeiden und damit Kosten im Gesundheitswesen senken kann