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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.
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.
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.
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.
Production and tribological characterization of tailored laser-induced surface 3D microtextures
(2019)
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.
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.