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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.