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Epidermolysis bullosa simplex (EBS) is a hereditary genodermatosis characterised by trauma-induced intraepidermal blistering of the skin. EBS is mostly caused by mutations in the KRT5and KRT14genes. Disease severity partially depends on the affected keratin type and may be modulated by mutation type and location. The aim of our study was to identify the molecular defects in KRT5and KRT14in a cohort of 46 Polish and one Belarusian probands with clinical suspicion of EBS and to determine the genotype–phenotype correlation. The group of 47 patients with clinical recognition of EBS was enrolled in the study. We analysed all coding exons of KRT5and KRT14using Sanger sequencing. The pathogenic status of novel variants was evaluated using bioinformatical tools, control group analysis (DNA from 100 healthy population-matched subjects) and probands’ parents testing. We identified mutations in 80 % of patients and found 29 different mutations, 11 of which were novel and six were found in more than one family. All novel mutations were ascertained as pathogenic. In the majority of cases, the most severe genotype was associated with mutations in highly conserved regions. In some cases, different inheritance mode and clinical significance, than previously reported by others, was observed. We report 11 novel variants and show novel genotype–phenotype correlations. Our data give further insight into the natural history of EBS molecular pathology, epidemiology and mutation origin.

Cystic fibrosis (CF) is one of the most common autosomal recessive diseases among Caucasians caused by a mutation in theCFTRgene. However, the clinical outcome of CF pulmonary disease varies remarkably even in patients with the sameCFTRgenotype. This has led to a search for genetic modifiers located outside theCFTRgene. The aim of this study was to evaluate the effect of functional variants in prostaglandin-endoperoxide synthase genes (COX1andCOX2) on the severity of lung disease in CF patients. To the best of our knowledge, it is the first time when analysis ofCOX1andCOX2as potential CF modifiers is provided. The study included 94 CF patients homozygous for F508del mutation ofCFTR. To compare their clinical condition, several parameters were recorded, e.g. a unique clinical score: disease severity status (DSS). To analyse the effect of non-CFTRgenetic polymorphisms on the clinical course of CF patients, the whole coding region ofCOX1and selectedCOX2polymorphisms were analysed. Statistical analysis of genotype-phenotype associations revealed a relationship between the heterozygosity status of identified polymorphisms and better lung function. These results mainly concernCOX2polymorphisms: −765G>C and 8473T>C. TheCOX1andCOX2polymorphisms reducing COX protein levels had a positive effect on all analysed clinical parameters. This suggests an important role of these genes as protective modifiers of pulmonary disease in CF patients, due to inhibition of arachidonic acid conversion into prostaglandins, which probably reduces the inflammatory process.

Ferromagnetic Fe-Pd shape memory alloys (SMA) undergo a martensitic phase transformation during cooling from a parent FCC phase to a tetragonal FCT martensite. This transformation is thermoelastic and reversible giving rise to the shape memory effect. On further cooling an irreversible FCT to BCT transformation occurs that makes impossible the memory effect. Nevertheless, the transformation from reversible to irreversible phase has been not complete since a volume fraction of reversible phase in the alloy is retained even after cooling below the temperature of appearance of the irreversible phase. The addition of Co lowers the temperature of the reversible and irreversible phase transformations but also reduces the amount of transformed irreversible martensite after cooling to 10?K.

ABSTRACTWe present here the biochemical and genetic characterization and antimicrobial susceptibility of 58 isolates of Aerococcus viridansisolated in pure culture from different clinical specimens of normally sterile body sites of pigs. A. viridansisolates were commonly susceptible to ß-lactam antimicrobials and exhibited a great genetic heterogeneity as determined by pulsed-field gel electrophoresis typing. The results indicate that A. viridansmight be included in the list of possible etiological agents causing disease in pigs.