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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.
Production and tribological characterization of tailored laser-induced surface 3D microtextures
(2019)
A multi-recombinative active matrix adaptation evolution strategy for constrained optimization
(2019)
Analysis of the (μ/μI,λ)-CSA-ES with repair by projection applied to a conically constrained problem
(2019)
We present the technological verification of a size-optimized 160-channel, 50-GHz silicon nitride-based AWG-spectrometer. The spectrometer was designed for TM-polarized light with a central wavelength of 850 nm applying our proprietary “AWG-Parameters” tool. For the simulations of AWG layout, the WDM PHASAR photonics tool from Optiwave was used. The simulated results show satisfying optical properties of the designed AWG-spectrometer. However, the high-channel count causes a large AWG size with standard design approaches. To solve this problem we designed a special taper enabling the reduction of AWG structure by about 15% while keeping the same optical properties. The AWG design was fabricated and the measured spectra not only confirm the proposed size-reduction but also the improvement of optical properties of the size-optimized AWG.
In this study, we carried out the structural and thermal characterization of a medical-grade poly (lactide) (PLA) by SEC, TGA, DSC, NMR, ICP-MS and Py-GC/MS. Moreover, we investigated the laser-induced degradation occurring when ultrashort laser pulses (ULP) were employed to cut extremely thin polymer films prepared by solvent-casting. ULP polymer cutting technology is an interesting manufacturing process for its advantages in potential medical applications. In fact, heat transmission to the region surrounding the cuts is limited, so that the incisions are precise and the effects on the regions around them are small. In this way, the need for post-processing is reduced and ULP cutting becomes interesting for industrial applications. However, degradation induced by ULP may occur and compromise the properties of the polymer samples. To investigate this possibility, portions of PLA films, ultrashort laser cut (ULC) and uncut, were analysed by SEC, DSC, NMR and FTIR. Furthermore, PLA oligomers were studied by ESI-MS. Both SEC and NMR showed a decrease in the molecular weight. FTIR, ESI-MS and NMR spectra revealed the presence of olefin end groups originated from a \beta-H transfer mechanism, induced by heat and/or light (Norrish II mechanism). Additionally, the inspection of the ESI mass spectra highlighted the cleavage of ester bonds related to the Norrish I type mechanism, undetected by the other techniques.
Lead–magnesium niobate lead titanate (PMN-PT) has been proven as an excellent material for sensing and actuating applications. The fabrication of advanced ultra-small PMN-PT-based devices relies on the availability of sophisticated procedures for the micro-machining of PMN-PT thin films or bulk substrates. Approaches reported up to date include chemical etching, excimer laser ablation, and ion milling. To ensure an excellent device performance, a key mandatory feature for a micro-machining process is to preserve as far as possible the crystalline quality of the substrates; in other words, the fabrication method must induce a low density of cracks and other kind of defects. In this work, we demonstrate a relatively fast procedure for the fabrication of high-quality PMN-PT micro-machined actuators employing green femtosecond laser pulses. The fabricated devices feature the absence of extended cracks and well-defined edges with relatively low roughness, which is advantageous for the further integration of nanomaterials onto the piezoelectric actuators.
Background: Peripheral arterial disease (PAD) is a common and severe disease with a highly increased cardiovascular morbidity and mortality. Through the circulatory disorder and the linked undersupply of oxygen carriers in the lower limbs, the ongoing decrease of the pain-free walking distance occurs with a significant reduction in patients’ quality of life. Studies including activity monitoring for patients with PAD are rare and digital support to increase activity via mobile health technologies is mainly targeted at patients with cardiovascular disease in general. The special requirement of patients with PAD is the need to reach a certain pain level to improve the pain-free walking distance. Unfortunately, both poor adherence and availability of institutional resources are major problems in patient-centered care.
Objective: The objective of this trackPAD pilot study is to evaluate the feasibility of a mobile phone–based self tracking app to promote physical activity and supervised exercise therapy (SET) in particular. We also aim for a subsequent patient centered adjustment of the app prototype based on the results of the app evaluation and process evaluation.
Methods: This study was designed as a closed user group trial, with assessors blinded, and parallel group study with face-to-face components for assessment with a follow-up of 3 months. Patients with symptomatic PAD (Fontaine stage IIa or IIb) and possession of a mobile phone were eligible. Eligible participants were randomly assigned into study and control group, stratified by their distance covered in the 6-min walk test, using the software TENALEA. Participants randomized to the study group received usual care and the mobile intervention (trackPAD) for the follow-up period of 3 months, whereas participants randomized to the control group received only usual care. TrackPAD records the frequency and duration of training sessions and pain level using manual user input. Clinical outcome data were collected at the baseline and after 3 months via validated tools (6-min walk test, ankle-brachial index, and duplex ultrasound at the lower arteries) and self-reported quality of life. Usability and quality of the app was determined using the user version of the Mobile Application Rating Scale.
Results: The study enrolled 45 participants with symptomatic PAD (44% male). Of these participants, 21 (47%) were randomized to the study group and 24 (53%) were randomized to the control group. The distance walked in the 6-min walk test was comparable in both groups at baseline (study group: mean 368.1m [SD 77.6] vs control group: mean 394.6m [SD 100.6]).
Conclusions: This is the first trial to test a mobile intervention called trackPAD that was designed especially for patients with PAD. Its results will provide important insights in terms of feasibility, effectiveness, and patient preferences of an app-based mobile intervention supporting SET for the conservative treatment of PAD.
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.
Verbraucherseitige Laststeuerung (Demand Side Management – DSM) wird als ein möglicher Ansatz betrachtet, um die Auswirkungen des Ausbaus von fluktuierenden Erneuerbaren im Stromnetz auszugleichen. Sollen viele verteilte Energiesysteme damit angesprochen werden, stellen zentralistische Ansätze dabei hohe Anforderungen an die Kommunikationsinfrastruktur. Als Alternative wird vielfach eine autonome Laststeuerung (ADSM) mit anreizbasierter Optimierung direkt auf dem Verbrauchergerät betrachtet. Dabei kann die Anreizfunktion mittels unidirektionaler Kommunikation übertragen werden.
Am Forschungszentrum Energie der Fachhochschule Vorarlberg wurden in den letzten Jahren Algorithmen und Prototypen für den Einsatz von ADSM auf verschiedensten verteilten Energiespeichern im elektrischen Stromnetz entwickelt. Dabei werden sowohl thermische Energiespeicher (z. B. Haushalts-Warmwasserspeicher) als auch elektrochemische Speicher (z. B. Batteriespeichersysteme oder Elektroautos) betrachtet. Außerdem werden die Auswirkungen solcher Systeme auf das elektrische Verteilnetz untersucht. Dieser Artikel gibt einen Überblick über die entwickelten Methoden und Ergebnisse aus diesem Forschungsfeld mit dem Ziel, ein weitreichendes Verständnis für die Chancen und Grenzen des ADSM zu schaffen.
Zusammenfassung: Eine umfassende Literaturrecherche (Comprehensive Literature Search, CLS) bezeichnet eine umfangreiche und aufwändige Recherche mit dem Ziel, möglichst alle Studien zur Beantwortung einer zugrundeliegenden Forschungsfrage im Rahmen einer systematischen Übersichtsarbeit zu identifizieren. Konkrete Empfehlungen oder eine Definition des Begriffs CLS gibt es jedoch nicht. Der vorliegende Beitrag führt in eine Rahmung der CLS ein, stellt die damit einhergehenden Herausforderungen dar und weist auf methodische Implikationen sowie mögliche zukünftige Forschungsbereiche hin.
In engineering design, optimization methods are frequently used to improve the initial design of a product. However, the selection of an appropriate method is challenging since many
methods exist, especially for the case of simulation-based optimization. This paper proposes a systematic procedure to support this selection process. Building upon quality function deployment, end-user and design use case requirements can be systematically taken into account via a decision
matrix. The design and construction of the decision matrix are explained in detail. The proposed
procedure is validated by two engineering optimization problems arising within the design of box-type boom cranes. For each problem, the problem statement and the respectively applied optimization methods are explained in detail. The results obtained by optimization validate the use
of optimization approaches within the design process. The application of the decision matrix shows the successful incorporation of customer requirements to the algorithm selection.
Transparent laser-structured glasses with superhydrophilic properties for anti-fogging applications
(2019)
Ultrashort pulse laser structuring enables direct modification of glass surfaces to generate superhydrophilic properties for anti-fogging applications. This approach makes coatings dispensable and the generated surfaces remain thermally, mechanically, and chemically resistant. However, the laser-generated structures usually cause scattering, which decreases transmission and may disturb the vision through the modified glass in the dry state. The aim of this study was to find a laser-processing strategy to achieve superhydrophilic, anti-fogging properties on glass surfaces with maximum transmission and minimal visual perception of the generated structure. For this purpose, we used an ultrashort-pulsed laser to generate periodic patterns of rippled circles or rough holes with varying pitch. The water contact angle and transmission of the structured glasses were measured as a function of the structured area. It was found that a periodic pattern of holes, which covers less than 1% of the surface, is already sufficient to reach the superhydrophilic state (contact angle < 5°) and provides nearly the same transmission as pristine glass. Pictures of objects imaged through dry, structured glasses, which were placed close to the lens or object, showed in both cases only a minimal decrease of contrast. If this minor drawback can be accepted, this direct laser structuring approach could be an interesting alternative to coating-based techniques and leaves even room to apply additional coatings for the fabrication of multi-functional special glasses.