Sembid

Abstract Calmodulin (CaM) is a major intracellular calcium receptor and probably the best studied member of the EF hand family of eukaryotic calcium-binding proteins. In contrast, much less is known about the related CaM-like proteins in animals and plants. We have previously characterized an embryonic phenotype of the single CaM gene cmd-1 from the nematode Caenorhabditis elegans. A previous functional high throughput study in C. elegans reported an embryonic lethal RNAi phenotype also for the related CaM-like gene cal-2. Based on these results we aimed to analyse the reported embryonic lethal cal-2 RNAi phenotype and compare it to that of the CaM cmd-1 embryo. Unfortunately, we were not able to find any visible RNAi phenotype for cal-2 as well as for the three remaining nematode cal genes cal-1, cal-3 and cal-4. However, because CaMs often have long cellular half-lives, we think that a definitive picture about the functionality of these genes will be established once corresponding mutant strains will be available. Immunofluorescence analyses revealed a significant expression of the CAL-2 and CAL-4 proteins in the body wall muscle indicating a possible functional redundancy of both these proteins in the C. elegans muscle.

Various studies have reported a higher incidence of heterochromatin variants among individuals with idiopathic reproductive failure. The aim of the present study was to assess the frequency of chromosomal heteromorphisms in 948 women with history of reproductive failure and 478 controls in the Presov region (Slovakia) (1998-2013) using G-banding and C-banding cytogenetic techniques. In 95 individuals (10.02%) with reproductive failure heterochromatin variants of chromosomes 1, 9, 16 and Y were detected. In the control group, there were 15 (3.15%) heterochromatin variants. The most frequent heterochromatin variants in the reproductive failure group were heterochromatin variants within chromosome 9 (9qh+/9qh-/inv(9)). The overall incidence of heterochromatin variants in women with reproductive failure was higher than in controls (p<0.0001; 95% CI 1.971-5.996). The results of the study confirmed the higher occurrence of chromosome anomalies in Slovak women with reproductive failure that absolutely reasons indication of cytogenetic examination.

We evaluated the prognostic impact of chromosomal abnormalities as detected by interphase fluorescence in situ hybridization (iFISH) in 86 chronic lymphocytic leukemia (CLL) patients. Overall, 39 of 86 (45%) patients displayed one (35%) or more (10%) chromosomal abnormalities, del13q (31%) being more frequently detected than trisomy 12 (19%) followed by del11q (17%), del17p (6%) and del6q (5%). Significant differences in the treatment free intervals (TFIs) were observed among individual cytogenetic subgroups (p=0.027) with the shortest mean TFIs in subgroups with del17p, del11q and trisomy 12 (10, 12 and 14 months, respectively) as compared to subgroups with normal cytogenetics (38 months) and del13q (68 months). Poor response to therapy was observed in subgroups with del11q (p=0.044) and trisomy 12 (p=0.047) while patients with normal cytogenetics had good response (p=0.003). Furthermore, del17p and del11q were associated with highest tumor burden and disease activity as reflected by corresponding laboratory data.