Open Access

Breath analysis holds great promise for real-time and non-invasive medical diagnosis. Thus, there is a considerable need for simple-in-use and portable analyzers for rapid detection of breath indicators for different diseases in their early stages. Sensor technology meets all of these demands. However, miniaturized breath analyzers require adequate breath sampling methods. In this context, we propose non-contact sampling; namely the collection of breath samples by exhalation from a distance into a miniaturized collector without bringing the mouth into direct contact with the analyzing device. To evaluate this approach different breathing maneuvers have been tested in a real-time regime on a cohort of 23 volunteers using proton transfer reaction mass spectrometry. The breathing maneuvers embraced distinct depths of respiration, exhalation manners, size of the mouth opening and different sampling distances. Two inhalation modes (normal, relaxed breathing and deep breathing) and two exhalation manners (via smaller and wider lips opening) forming four sampling scenarios were selected. A sampling distance of approximately 2 cm was found to be a reasonable trade-off between sample dilution and requirement of no physical contact of the subject with the analyzer. All four scenarios exhibited comparable measurement reproducibility spread of around 10%. For normal, relaxed inspiration both dead-space and end-tidal phases of exhalation lasted approximately 1.5 s for both expiration protocols. Deep inhalation prolongs the end-tidal phase to about 3 s in the case of blowing via a small lips opening, and by 50% when the air is exhaled via a wide one. In conclusion, non-contact breath sampling can be considered as a promising alternative to the existing breath sampling methods, being relatively close to natural spontaneous breathing.

Adult muscle carnitine palmitoyltransferase (CPT) II deficiency is a rare autosomal recessive disorder of long-chain fatty acid metabolism. It is typically associated with recurrent episodes of exercise-induced rhabdomyolysis and myoglobinuria, in most cases caused by a c.338C > T mutation in the CPT2 gene. Here we present the pedigree of one of the largest family studies of CPT II deficiency caused by the c.338C > T mutation, documented so far. The pedigree comprises 24 blood relatives of the index patient, a 32 year old female with genetically proven CPT II deficiency. In total, the mutation was detected in 20 family members, among them five homozygotes and 15 heterozygotes. Among all homozygotes, first symptoms of CPT II deficiency occurred during childhood. Additionally, two already deceased relatives of the index patient were carriers of at least one copy of the genetic variant, revealing a remarkably high prevalence of the c.338C > T mutation within the tested family. Beside the index patient, only one individual had been diagnosed with CPT II deficiency prior to this study and three cases of CPT II deficiency were newly detected by this family study, pointing to a general underdiagnosis of the disease. Therefore, this study emphasizes the need to raise awareness of CPT II deficiency for correct diagnosis and accurate management of the disease.

Die digitale Transformation macht keineswegs halt vor der akademischen Lehre. Moderne Lehr-Lern-Arrangements nehmen Möglichkeiten der digitalen und der analogen Welt auf und nutzen die jeweiligen Stärken.

Abstract: ams AG is a leading provider of sensing solutions developing semiconductor sensors in a wide variety of fields, with optical sensing as one of the key competences. Since integrated photonics is a promising technology for new sensor systems, ams AG has been developing processes for fully integrated CMOS-compatible photonic components based on Si3N4. This talk will provide an overview on the processing of basic photonic building blocks and their optical properties and performance. We will also give examples for applications in the fields of optical coherence tomography and opto-chemical gas sensing. In the 1980s photonics started its way for common use in telecommunication technology, using optical fiber technologies. In recent years, also a variety of photonic sensors has been proposed and developed. One of the major drawbacks of most of these photonic devices has been the lack of integration into existing (semiconductor) production processes, so far. This integration is feasible using SiN material systems to process monolithically integrated CMOS-compatible photonic sensors in the visible and near-infrared spectrum. We will present the basic processing steps for the SiN photonic technology, the development of some critical processing steps such as SiN deposition and SiN etching as well as several photonic components (waveguides, splitters, etc.) with their optical properties. One of the applications presented relates to optical coherence tomography (OCT), a fast growing imaging technique in ophthalmology. Drawbacks of existing OCT systems are their high costs as well as their bulkiness, which prevents a wider spread use of OCT systems. One way to overcome both cost and size issues is to integrate optical and electrical components on a single chip. Part of this work was carried out in the framework of the projects COHESION (funded by the Austrian Research Promotion Agency (FFG), no. 848588), OCTCHIP (funded by the EU’ Horizon 2020 research and innovation programme, no. 688173), and COLODOR (M-ERA.NET transnational Call 2015, funded by the Austrian Research Promotion Agency (FFG), no.854066, and the Bundesministerium für Bildung und Forschung, Germany).