Introduction Osteogenesis imperfecta, Hypophosphatasia, X-linked hypophosphatemia and Ehlers Danlos syndrome are rare genetic bone diseases. As there is currently no cure, patients are advised to have a health-conscious lifestyle.

Daniel A. Kraus, Judith Haschka, Stephanie Huber, Jakob E. Schanda, Martina Behanova, Philip Meier, Arian Bahrami, Shahin Zandieh, Christian Muschitz, Heinrich Resch, Matthias Mähr, Katharina Rötzer, Göykan Uyanik, Jochen Zwerina, Roland Kocijan 1 Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma, Center Vienna-Meidling, Vienna, Austria; Hanusch Hospital Vienna, I Medical Department, Vienna, Austria; St. Vincent Hospital Vienna, II Medical Department, Vienna, Austria; 4 AUVA Trauma Center Vienna-Meidling, Department for Trauma Surgery, Vienna, Austria; Ludwig Boltzmann Institute for Experimental and Clinical Traumatology, Vienna, Austria; Austrian Cluster for Tissue Regeneration, Vienna, Austria; Image Biopsy Lab, Vienna, Austria; Hanusch Hospital Vienna, Department of Radiology and Nuclear Medicine, Vienna, Austria; Sigmund Freud University Vienna, Medical Faculty of Bone Diseases, Vienna, Austria; 10 Hanusch Hospital Vienna, Department of Medical Genetics, Vienna, Austria; 11 Sigmund Freud University, Medical Faculty of Genetics, Vienna, Austria

Osteoporosis-related hip fractures represent a substantial cause of mortality and morbidity in industrialized countries like Austria. Identification of groups at high risk for mortality after hip fracture is crucial for health policy decisions. To determine in-hospital, long-term, and excess mortality after osteoporosis-related hip fracture in Austrian patients, we conducted a retrospective cohort analysis of pseudonymized invoice data from Austrian social insurance authorities covering roughly 98 % of the entire population. The data set included 31,668 subjects aged 50 years and above sustaining a hip fracture between July 2008 and December 2010 with follow-up until June 2011, and an age-, gender-, and regionally matched control population without hip fractures (56,320 subjects). Kaplan–Meier and Cox hazard regression analyses served to determine unadjusted and adjusted mortality rates: Unadjusted all-cause 1-year mortality amounted to 20.2 % (95 % CI: 19.7–20.7 %). Males had significantly higher long-term, in-hospital, and excess mortality rates than females, but younger males exhibited lower excess mortality than their female counterparts. Advanced age correlated with increased long-term and in-hospital mortality, but lower excess mortality. Excess mortality, particularly in males, was highest in the first 6 months after hip fracture, but remained statistically significantly elevated throughout the observation period of 3 years. Longer hospital stay per fracture was correlated with mortality reduction in older patients and in patients with more subsequent fractures. In conclusion, more efforts are needed to identify causes and effectively prevent excess mortality especially in male osteoporosis patients.

Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)

Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)

Pharmacogenetic testing enhances patient safety by improving medical treatment and reducing side effects. It has shown potential in both primary and secondary care. However, implementation in healthcare, particularly in primary care, is slow.The objective was to review articles published on the attitudes towards, and knowledge on pharmacogenetic testing in primary care, among general practitioners, pharmacists, and patients.The review was performed according to the PRISMA checklist. A systemized literature search was followed by a 2-step screening process. Apart from the content of articles being within the scope of the review, inclusion criteria included: articles in English; primary research articles; qualitative, quantitative, or mixed methods. Content analysis was conducted as a qualitative meta-synthesis. The methodological rigor of included articles was assessed.Fifteen studies were included. The analysis resulted in the following main themes: i) benefits of pharmacogenetic testing, ii) barriers to pharmacogenetic testing, iii) pharmacists' role in pharmacogenetic counselling, and iv) pharmacists' knowledge on pharmacogenetics. Methodological rigor was generally medium/high.More studies are needed in this area, and there is a need for more education on pharmacogenetic testing for healthcare professionals. Issues like patient autonomy, economy, and access to tests also need to be addressed.