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The most prevalent "rare" disease worldwide, cystic fibrosis (CF), is an autosomal recessive multisystem disease, caused by mutations in the CFTRgene. The knowledge of CFTRmutations present in certain population is important for designing a simple, fast and cost-effective genetic testing approach, also for better management of CF patients, including the administration of novel targeted therapies. Here, we present genetic results of 158 unrelated CF patients from the National CF Registry of the Republic of North Macedonia. Initially, patients were screened for the 11 most common CF mutations. Additional CF mutations and large deletions/duplications in the CFTRgene were analyzed using commercial kits. If the genotype was undetermined, all CFTRexons were analyzed using Sanger DNA sequencing or next generation sequencing (NGS) (since 2014). The most common CF mutation, c.l521_ 1523del (legacy name F508del), was found with an overall incidence of 75.9%. Additionally, 26 other pathogenic variants and three large deletions were identified in the CFTRgene as a genetic cause of CF. Two of these, c.1070 C>T (p.Ala357Val) and c.2779_2788dup CTTGCTATGG (p.Gly930AlafsTer48), were novel. According to the distribution and prevalence of the pathogenic variants detected in our patients, a fast and cost-effective method, based on a single base extension was designed as a first-line CF genetic test with a 90.0% detection rate within our population. Furthermore, the knowledge of CFTRmutation classes in our CF patients represents the first step toward personalized therapy for CF in our country.

Human adenoviruses (HAdV) are used as a model system to investigate tumorigenic processes in mammalian cells where the viral oncoproteins E1A and E1B-55K are absolutely required for oncogenic transformation, because they simultaneously accelerate cell cycle progression and inhibit tumor suppressor proteins such as p53, although the underlying mechanism is still not understood in detail. In our present study, we provide evidence that E1B-55K binding to the PML-NB component Sp100A apparently has an essential role in regulating adenovirus-mediated transformation processes. Specifically, when this E1B-55K/Sp100A complex recruits p53, Sp100A-induced activation of p53 transcriptional activity is effectively abolished. Hence, Sp100A exhibits tumor-suppressive activity, not only by stabilizing p53 transactivation but also by depressing E1A/E1B-55K-mediated transformation. E1B-55K counteracts this suppressive activity, inducing Sp100A SUMOylation and sequestering the modified cellular factor into the insoluble matrix of the nucleus or into cytoplasmic inclusions. These observations provide novel insights into how E1B-55K modulates cellular determinants to maintain growth-promoting activity during oncogenic processes and lytic infection.

The novel experimental approach is applied to investigate the cross sections for rotational relaxation [MATH] in the SF6-Ar mixtures irradiated by pulsed CO2laser line. The applied method is the pulsed photoacoustic technique, and it is based on proposal for [MATH] determination by transmission spectroscopy technique. The collisional effects have been investigated for the 0,l-0,8 J/cm2laser fluence range. Also, the collisional effects on rotational and translational temperature (TR) for SF6-Ar mixtures have been calculated.

Pulsed laser photoacoustic spectrometer based on CO2laser excitation is reported. Advantage has been taken of the temporal resolution of the gas absorption signal relative to that of the background. Detection sensitivity of 1.5 ppbv ethyene (4.9x10-8cm-1) is achieved.

The pulsed laser photoacoustic technique, simultaneously used with transmission spectroscopy, was applied for detailed study of IR multiphoton absorption processes in polyatomic molecules. Collisional effects were specially investigated in SF6diluted with Ar as nonabsorbing species. The results regarding the enhanced absorption cross sections (σe) for SF6-Ar mixtures are obtained with precision of ±18 - ±29%. The differential absorption cross sections (σed), as well as the average number of absorbed photons per SF6molecule in 0,1 - 0,7 J/cm2fluence range and 1 - 140 mbar Ar pressure range are also presented.

The authors report a rare case of primary urethral/paraurethral adenocarcinoma in a female patient. The tumor was first detected at the external and internal urethral orifices, with later recurrences in the region of the urinary bladder neck. Histology did not reveal the exact origin of the malignancy. The patient was treated by transurethral resection, regularly repeated during the 3–6-monthly checks. Five years after diagnosis she remains symptom free and has a high quality of life.

Abstracts: Up to now the endocrine properties of the thymus have not been systematically investigated. Recent data indicate that a variety of hormones can be produced in the cells of the thymic endocrine subcapsular zone (oxytocin, vasopressin, beta-endorphin, etc.). In the post-menopausal period the calcitonin production in the thymus is of particular interest.