Technikon (Austria)

Neurofibromatosis type1 (NF1) is arare autosomal dominant tumor predisposition syndrome with abirth prevalence of approximately 1in 2000-3000 individuals. Management of both benign and malignant tumors arising in individuals with NF1 is demanding and tumors may be difficult to treat. Both standardized and individual surveillance programs are therefore highly important to prevent morbidity and mortality in patients with NF1. The guidelines for the clinical management of NF1 recently proposed by the European Reference Network for Genetic Tumor Risk Syndromes provide the cornerstone of the present surveillance form and were discussed through three rounds of voting and afinal consensus meeting involving experts from five Austrian and one German clinical NF1 centers for adults and one patient organization representative. Subsequently, 31items within 4categories were integrated into the proposed surveillance form for Austria. All recommendations, unless otherwise specified, pertain to primarily asymptomatic patients in routine follow-up. At healthcare transition from pediatric to adult surveillance or the initial visit in adulthood, we suggest athorough clinical, laboratory and radiological examination to obtain abaseline for future diagnostics. To comply with the general screening recommendations in Austria, we suggest extending the frequency of clinical visits from annual to biennial at 50years of age. In cases of clinical dynamics, early follow-up is recommended to facilitate early detection of potential complications. Particular emphasis should be placed on preventive patient education.

BackgroundCongenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. Although effective treatments are available, CMS is probably underdiagnosed, and systematic clinico-genetic investigations are warranted.MethodsWe used a nationwide approach to collect Austrian patients with genetically confirmed CMS. We provide a clinical and molecular characterization of this cohort and aimed to ascertain the current frequency of CMS in Austria.ResultsTwenty-eight cases with genetically confirmed CMS were identified, corresponding to an overall prevalence of 3.1 per million (95% CI 2.0–4.3) in Austria. The most frequent genetic etiology was CHRNE (n = 13), accounting for 46.4% of the cohort. Within this subgroup, the variant c.1327del, p.(Glu443Lysfs*64) was detected in nine individuals. Moreover, causative variants were found in DOK7 (n = 4), RAPSN (n = 3), COLQ (n = 2), GMPPB (n = 2), CHAT (n = 1), COL13A1 (n = 1), MUSK (n = 1) and AGRN (n = 1). Clinical onset within the first year of life was reported in one half of the patients. Across all subtypes, the most common symptoms were ptosis (85.7%), lower limb (67.9%), upper limb (60.7%) and facial weakness (60.7%). The majority of patients (96.4%) received specific treatment, including acetylcholinesterase inhibitors in 20, adrenergic agonists in 11 and 3,4-diaminopyridine in nine patients.ConclusionsOur study presents the first systematic characterization of individuals with CMS in Austria, providing prevalence estimates and genotype–phenotype correlations that may help to improve the diagnostic approach and patient management.

This deliverable provides an initial assessment of the RadioWeaves infrastructure, developed in WP2 of REINDEER.<br> Taking the description of RadioWeaves in D1.1 and the use cases and KPIs defined therein, as a starting point, a first version of the building blocks of the infrastructure are presented, together with new terminology. Architecture and topology are introduced together with a quantitative and qualitative analysis of high-level requirements on a RadioWeaves infrastructure, setting the scope for more detailed investigations and<br> design.

Abstract This paper summarizes desk research conducted on User Experience and Design Research for Mobile Governmental Services and presents Good Practices. As mobile services are the next step for governmental services, it is necessary that as this transition occurs that the integration of user needs, and user experience is considered from the start of the development process. This paper summarizes the methods, key findings, challenges that were discovered from UX and Design literature research on mobile and electronic governmental services. As a result, this paper derives Good Practices as a reference point for technical developers and other interested stakeholders to include the necessary user experience and design needs for market success.KeywordsMobile servicesMobile governmentmGovernmenteGovernmentGovernmental servicesUser experienceDesign research

We describe compositional architectures and certifications in the research project certMILS. Compositional architectures enable re-use of certified COTS (commercial off-the-shelf) components with a well-defined delegation of responsibilities between component developers and system integrators during cyber physical system design and certification. We show how we used a Common Criteria certified MILS (Multiple Independent Levels of Safety / Security) platform for compositional designs and IEC 62443-4-1/62443-4-2 security evaluations and certifications for composed systems from the domains of smart grid, railway, and subway, that are safety- and security-critical.

Die Parkinson-Krankheit ist nach der Alzheimer-Krankheit die häufigste neurodegenerative Erkrankung. Sie wird zur Gruppe der hypokinetischen Bewegungsstörungen gezählt. Atypische Parkinson-Syndrome stellen eine pathologisch inhomogene Gruppe seltener neurodegenerativer Erkrankungen dar, die im Vergleich zur Parkinson-Krankheit durch einen maligneren Verlauf und ein schlechteres Therapieansprechen gekennzeichnet sind. Neuroprotektive bzw. krankheitsmodifizierende Therapien stehen weder für die Parkinson-Krankheit noch für atypische Parkinson-Syndrome zur Verfügung. Als wirksamste Substanz zur symptomatischen Therapie gilt nach wie vor L‑DOPA. Die für die Parkinson-Krankheit zur Verfügung stehenden invasiven Therapieoptionen finden bei atypischen Parkinson-Syndromen keine Anwendung.