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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.
Varying mindsets in Design Thinking. Why they change during the process and how to nudge them
(2019)
During two studies the influence of technologies on sleep were analyzed. The first one is about the effect of light on the circadian rhythm and as a consequence on sleep quality of persons in a vegetative state. The second one, which is still running, surveys the influence of several technologies on the sleep of elderly people living in a nursing home.
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.
Introducing 3D sub-micrometer technologies based on polymers opened new possibilities of design and fabrication of photonic devices and components in 3D arrangement. 3D laser lithography is direct writing process based on two photon polymerization exhibiting high accuracy and versatility, where numerous resists and even polymer ceramic mixtures can be used. We present design and simulation of polymer based photonic components with a focus on arrayed waveguide gratings (AWG) based on optical multiplexers/demultiplexers and optical splitters. All optical components were designed for 1550 nm operating wavelength, applying two commercial photonics tools. This study creates a basis for the design of optical components in 3D arrangement, which will be fabricated by 3D laser lithography.
In dieser Arbeit wird Supervised Learning verwendet, um die Zuverlässigkeit von Schweißverbindungen zu evaluieren.
Um die Schweißqualität zu bestimmen, wurden End of Life Tests durchgeführt. Für die statistische Auswertung und Vorhersage der zu erwartenden Lebensdauer, wurden die Daten basierend auf einer logarithmischen Normalverteilung und mit einer multivariablen linearen Regression modelliert. Um die signifikanten Einflussfaktoren zu identifizieren, wurde eine schrittweise Regression genutzt. Die Ergebnisse zeigen, dass das entwickelte Modell die Zuverlässigkeit und Lebensdauer der Schweißverbindung akkurat abbildet und präzise Vorhersagen liefern kann.
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.