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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)
Production and tribological characterization of tailored laser-induced surface 3D microtextures
(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.
Investigations on mechanical stability of laser machined optical fibre tips for medical application
(2019)
Light delivery is a challenging task, when it comes to medical applications. The light is guided through optical fibers from the light source towards the treatment region. In case of interstitial light application, the light has to be decoupled from the fibre and spread to the surrounding tissue. To reach larger tissue volumes, this can be either obtained by adding a scattering volume to the tip of the fibre, or by directly modifying the optical fibre itself in order to break the total reflection within the fibre core. Such modifications can be either on the fibre surface itself or internally in the fibre core. One approach to obtain the fibre structuring could be laser induced surface roughening using an ultrafast laser source. While using volume scattering as diffusor at the fibre tip is currently the gold standard for non-thermal applications (< 0.3W/cm), the decoupling of high power laser intensities for thermal treatment options is still challenging. Structuring the fibre core itself usually is related with a loss of mechanical stability. As fibre breakage and potential loss within the human body can have serious consequences, the mechanical stability is one of the quality criterion in diffuser manufacturing. Therefore, investigations about the mechanical stability of laser manufactured optical fibre diffusers are needed.
In order to evaluate the mechanical stability, a 4-point as well as a 2-point breaking test were developed. Different fibre diffusers, based on volume or surface scattering, were manufactured using fs-laser ablation techniques and its breaking strengths were investigated.
It could be shown that for surface fibre modifications, the mechanical stability reduces with increasing defect depth. The stability significantly drops when the laser ablation was performed in the thermal energy range. Volume scattering modified fibres only showed a slight reduction in stability compared to un-machined fibres.
In conclusion, internal fibre modification seems to be the most promising method to establish optical fibre diffusers, which are capable of several watts of emission power, while preserving its mechanical strength.