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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.
In recent years, ultrashort pulsed lasers have increased their applicability for industrial requirements, as reliable femtosecond and picosecond laser sources with high output power are available on the market. Compared to conventional laser sources, high quality processing of a large number of material classes with different mechanical and optical properties is possible. In the field of laser cutting, these properties enable the cutting of multilayer substrates with changing material properties. In this work, the femtosecond laser cutting of phosphor sheets is demonstrated. The substrate contains a 230 micrometer thick silicone layer filled with phosphor, which is embedded between two glass plates. Due to the softness and thermal sensitivity of the silicone layer in combination with the hard and brittle dielectric material, the separation of such a material combination is challenging for both mechanical separation processes and cutting with conventional laser sources. In our work, we show that the femtosecond laser is suitable to cut the substrate with a high cutting edge quality. In addition to the experimental results of the laser dicing process, we present a universal model that allows predicting the final cutting edge geometry of a multilayer substrate.