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Abstract Background Mutations in the DNAI1 gene, encoding a component of outer dynein arms of the ciliary apparatus, are the second most important genetic cause of primary ciliary dyskinesia (PCD), the genetically heterogeneous recessive disorder with the prevalence of ~1/20,000. The estimates of the DNAI1 involvement in PCD pathogenesis differ among the reported studies, ranging from 4% to 10%. Methods The coding sequence of DNAI1 was screened (SSCP analysis and direct sequencing) in a group of PCD patients (157 families, 185 affected individuals), the first ever studied large cohort of PCD patients of Slavic origin (mostly Polish); multiplex ligation-dependent probe amplification (MLPA) analysis was performed in a subset of ~80 families. Results Three previously reported mutations (IVS1+2-3insT, L513P and A538T) and two novel missense substitutions (C388Y and G515S) were identified in 12 families (i.e. ~8% of non-related Polish PCD patients). The structure of background SNP haplotypes indicated common origin of each of the two most frequent mutations, IVS1+2-3insT and A538T. MLPA analysis did not reveal any significant differences between patients and control samples. The Polish cohort was compared with all the previously studied PCD groups (a total of 487 families): IVS1+2-3insT remained the most prevalent pathogenetic change in DNAI1 (54% of the mutations identified worldwide), and the increased global prevalence of A538T (14%) was due to the contribution of the Polish cohort. Conclusions The worldwide involvement of DNAI1 mutations in PCD pathogenesis in families not preselected for ODA defects ranges from 7 to 10%; this global estimate as well as the mutation profile differs in specific populations. Analysis of the background SNP haplotypes suggests that the increased frequency of chromosomes carrying A538T mutations in Polish patients may reflects local (Polish or Slavic) founder effect. Results of the MLPA analysis indicate that no large exonic deletions are involved in PCD pathogenesis.

Nd3+-doped fluorozirconate-based glasses which contain hexagonal BaCl2 nanocrystals are analyzed for their photoluminescence and multiphonon relaxation (MPR) properties. The MPR rates of various Nd3+ levels are obtained from time-resolved spectroscopy using selective laser pulse excitation. The nonradiative decay rates are estimated from the difference between measured and calculated radiative decay rates as well as from the analysis of luminescence rise times. The MPR rates display an exponential dependence on the energy gap. Temperature-dependent studies of the decay indicate that phonons of the BaCl2 nanocrystals are involved in the MPR processes leading to extremely low MPR rates which are orders of magnitude lower than in conventional oxide and halide glasses. Photoluminescence emissions,which are usually quenched by MPR, and enhanced radiative quantum efficiencies are found.

A novel approach for applanation-free femtosecond refractive surgery with the help of a contact liquid layer is presented. A laboratory device for performing corneal procedures is described based on a femtosecond-laser system which has been tested and evaluated by processing ex vivo pig eyes. With its help, flap cuttings for different flap thicknesses were performed. The accomplished corneal surfaces are comparable to already published results. The reproducibility of the flap thicknesses is very good, with a standard deviation of 10 µm. The processing and removal of an intrastromal lenticule as thin as 30 µm could be shown. The extraction of such lenticule through a corneal side channel could also be accomplished successfully and is a promising improvement of the overall surgery procedure.

We investigate the possibility of preparation of laser-induced dichroism in composite glasses with a high concentration of silver nanoparticles. A detailed analysis based on the Maxwell-Garnett theory and experimental results shows that particles at different volume fractions react differently to the same laser irradiation parameters. Based on these findings, we demonstrate that a well-defined sequence of multiple irradiation and intermediate annealing can maximize the particles' aspect ratio and avoid unwanted partial destruction. The proposed irradiation technique permits production of micropolarizing structures with high polarization contrast in the visible and near-IR regions.

We screened a large group of primary ciliary dyskinesia/Kartagener syndrome (PCD/KS) patients and their siblings (148 patients from 126 unrelated families) for the presence of the CFTR mutations that are most frequently found in the Polish population: the severe F508del and 2,3del21kb, and the mild 3849+10kbC > T. No statistically significant increase in the frequency of these mutations was found in the studied group, as compared with the general population. This is consistent with an earlier observation in another population and indicates that the status of being a carrier of any of these CFTR mutations should not be considered as an important risk factor in PCD/KS pathogenesis.