Metabolomic profiling of ascending thoracic aortic aneurysms and dissections - Implications for pathophysiology and biomarker discovery

Doppler,C.; Arnhard,K.; Dumfarth,J.; Heinz,K.; Messner,B.; Stern,C.; Koal,T.; Klavins,K.; Danzl,K.; Pitterl,F.; Grimm,M.; Oberacher,H.; Bernhard,D.; OBJECTIVE: Our basic understanding of ascending thoracic aortic aneurysm (ATAA) pathogenesis is still very limited, hampering early diagnosis, risk prediction, and development of treatment options. “Omics”-technologies, ideal to reveal tissue alterations from the normal physiological state due to disease have hardly been applied in the field. Using a metabolomic approach, with this study the authors seek to define tissue differences between controls and various forms of ATAAs. [Read More]

Open source software EuroForMix can be used to analyse complex SNP mixtures

Bleka,O.; Eduardoff,M.; Santos,C.; Phillips,C.; Parson,W.; Gill,P.; A series of two- and three-person mixtures of varying dilutions were prepared and analysed with Life Technologies’ HID-Ion AmpliSeq Identity Panel v2.2 using the Ion PGM massively parallel sequencing (MPS) system. From this panel we used 134 autosomal SNPs. Using the reference samples of three donors, we evaluated the strength of evidence with likelihood ratio (LR) calculations using the open-source quantitative EuroForMix program and compared the results with a previous study using a qualitative software (LRmix). [Read More]

Optimized mtDNA Control Region Primer Extension Capture Analysis for Forensically Relevant Samples and Highly Compromised mtDNA of Different Age and Origin

Eduardoff,M.; Xavier,C.; Strobl,C.; Casas-Vargas,A.; Parson,W.; The analysis of mitochondrial DNA (mtDNA) has proven useful in forensic genetics and ancient DNA (aDNA) studies, where specimens are often highly compromised and DNA quality and quantity are low. In forensic genetics, the mtDNA control region (CR) is commonly sequenced using established Sanger-type Sequencing (STS) protocols involving fragment sizes down to approximately 150 base pairs (bp). Recent developments include Massively Parallel Sequencing (MPS) of (multiplex) PCR-generated libraries using the same amplicon sizes. [Read More]

Retrospective case study on the suitability of mid-infrared microscopic imaging for the diagnosis of mucormycosis in human tissue sections

Pallua,J.D.; Unterberger,S.H.; Pemberger,N.; Woess,C.; Ensinger,C.; Zelger,B.; Lass-Florl,C.; Lackner,M.; Infections caused by mucormycetes are life-threatening fungal infections, particularly for patients suffering from immunosuppression or uncontrolled diabetes mellitus. The early diagnosis of this devastating infectious fungal disease is essential to target antifungal therapy and to improve the patient’s outcome. However, the diagnosis of mucormycoses remains challenging, as clinical signs and symptoms are unspecific and comprehensively evaluated diagnostic tools are missing. Therefore, we performed a retrospective case study on formalin-fixed, paraffin-embedded (FFPE) tissues of patients suffering from invasive mucormycosis, to evaluate the suitability of mid-infrared (MIR) microscopic imaging for the detection and identification of mucormycetes in human tissue sections from cheek, pleura, lung and groin by biochemical changes. [Read More]