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Gaucher disease is a autosomal recessive inherited monogenic disease caused by beta-glucocerebrosidase deficiency. Clinically, there are three types: type 1 (non-neuronopathic), type 2 (acute neuronopathic) and type 3 (chronic neuronopathic), in 92%, 1% and respectively 7% of patients. Specific diagnosis has been possible in Romania since 1997 and enzyme replacement therapy since 2002. The aim of the study is to present the epidemiologic, clinical and molecular data of the Romanian patients with Gaucher disease ant their evolution.Patients and methodsSeventy-nine patients (76 patients with Gaucher disease type 1 and 3 patients with Gaucher disease type 3; F/M=1.37/1) were evaluated clinically and by measurement of haemoglobin, thrombocytes, hepatic and splenic volume, chitotriosidase, bone density (Z score) and severity index at diagnosis and every each 6-12 months. Sixty-nine patients were treated with imiglucerase for a period of 1-13 years.ResultsGaucher disease prevalence in our country, evaluated according to the number of patients diagnosed, is 1/250,000 vs. the potential prevalence of 1/100,000. Mean age at clinical onset was 15.4 years and 28.8 years at specific diagnosis. We found a high incidence of genotype N370S/L444P (38%) and of genotype N370S/? (32%), predictive for a severe phenotype vs 15.3% and 9.6% respectively in patients reported in International Gaucher Registry. Splenectomy was effectuated in 30% patients before the enzyme replacement therapy. Anaemia, thrombocytopenia, splenomegaly and bone disease was present in 52%, 37.7%, 100% and 91% of patients. The status of untreated patients was progressively worsening and four of the patients died. Enzyme replacement therapy led to normalisation of haemoglobin, thrombocytes, hepatic volume and chitotriosidase after 0.5, 1.5, 2 and 3 years respectively. After 4 years of treatment, splenomegaly has been reduced from 14.4 of normal to 3.06 of normal. Clinical evolution of bone disease was favourable.ConclusionGaucher disease is still undiagnosed in our country. Severe forms of disease are more prevalent. The patients have access to specific, enzyme and molecular diagnosis. Evolution under enzyme replacement therapy is very good.

So far dexrazoxane (DEX) is the only drug approved for prevention of chronic anthracycline (ANT) cardiotoxicity. However, molecular mechanisms responsible for its cardioprotective effects remain unclear. This report addresses traditional as well as alternative mechanisms of its cardioprotective action against chronic ANT cardiotoxicity. Daunorubicin (DAU, 3 mg/kg/week for 10 weeks) was used to induced cardiotoxicity in rabbits and DEX (60 mg/kg) was administered prior each DAU dose. LV myocardium was analyzed for oxidative stress, mitochondrial damage, changes in mtDNA and mtDNA/nDNA ratio, and perturbations in mitochondrial proteins expression. DEX ability to interact with iron was addressed in H9c2 cardiomyoblasts. In addition, topoisomerase-2β (TOP2b) expression was studied after DEX exposure in vitro and in vivo. DEX completely prevented DAU-induced heart damage as well as mitochondrial damage. This protection was not directly based on protection from oxidative damage of myocardium or common deletion in mtDNA. Instead, DEX was able to prevent DAU-induced significant decrease in expression of mitochondrial biogenesis regulators (e.g. TFAM) and OXPHOS subunits encoded by both nDNA and mtDNA. Noteworthy, in vitro experiments showed inability of DEX to mobilize iron from cells. Finally, DEX exposure decreased TOP2b protein levels which can correspond with recent data showing that ANT cardiotoxicity may beTOP2b-mediated. The present data suggest that DEX cardioprotective effects need not be based on iron chelation and prevention of oxidative stress or mtDNA deletions. Instead, DEX-induced depletion of TOP2b may be important for cardioprotection and merit further study. Supported by GACR 13–15008S and PRVOUK P37/05.

Inorganic nitrate/nitrite have been shown cardioprotective against ischemia-reperfusion injury and recently also against acute high-dose anthracycline (ANT) cardiotoxicity. However, translatability of the latter findings to clinically more relevant chronic ANT cardiotoxicity remains elusive. Hence, we wanted to clarify whether inorganic nitrate/nitrite may overcome chronic ANT cardiotoxicity just as effectively as dexrazoxane (DEX). Chronic cardiotoxicity was induced in rabbits with daunorubicin (DAU, 3 mg/kg, weekly for 10 weeks). Sodium nitrate was administered orally in the water (1 g/L), sodium nitrite (0.15 and 5 mg/kg) and DEX (60 mg/kg) were administered parenterally before each DAU dose. DAU induced significant decrease of LV systolic and diastolic function (p<0.05), rise of cardiac troponin T in plasma, serious degenerative changes and premature death. DEX effectively prevented all these changes, whereas nitrate supplementation had no impact on ANT cardiotoxicity. Similar results were also found in low-dose nitrite group. All animals receiving nitrite 5 mg/kg survived whole experiment, albeit with the significant decline in systolic as well as diastolic function. Morphological findings in this group resembled those in DAU group, but with lower total severity. Interestingly, several molecular parameters concerning apoptosis and mitochondria showed lower alterations in the LV myocardium of the nitrite groups, whereas number of other cardiotoxicity markers were not improved (e.g., HO1 or desmin expression). Inorganic nitrate and nitrite are unable to effectively prevent chronic ANT cardiotoxicity which contrasts with powerful cardioprotectant DEX.Supported by IGA NT13457-4-2012 and by the European Social Fund and state budget of the Czech Republic (CZ.1.07/2.3.00/30.0022).

The aggressive behaviour of Anochetus ghilianii (Spinola, 1851) was estimated in the laboratory by observing the outcome of individual confrontations between workers belonging to 17 colonies according to the geographical distance between these colonies. This study aimed to better understand the social organization of this species and its mode of reproduction and colony foundation. Three categories of behaviours were exhibited by the opponent ants: aggressive, low-aggressive and non-aggressive. The latter category was the most prevalent with an average percentage of 82.56%, and prevailed in eight colonies. Conversely, aggressive behaviours represented only 9.61% of the records on average and appeared only when distance between colonies exceeded 1500 m. In addition, the percentage of aggressive behaviours considerably increased in relation to the geographical distance between the colonies. There was a significant positive correlation for aggressive behaviours, and negative for non-aggressive behaviours. This low level of aggressive behaviour suggests a short genetic distance between colonies which could have arisen through colony fission reproduction (dependent colony foundation).

Introduction RasGRP is a member of the CDC25 family of Ras guanyl nucleotide exchange factors. RasGRP1 is expressed in T and B cells whereas RasGRP3 is only expressed in B cells. These proteins are involved in T cell receptor and B cell receptor signalling. Indeed, Ras activation stimulates various effector systems, leading to changes in genes expression which are critical for T or B cell development and activation during the cellular immune response. In previous studies, it has been shown that RasGRP1 and RasGRP3 were dysregulated in peripheral blood mononuclear cells (PBMC) and synovium from rheumatoid arthritis (RA) patients leading to the question of RasGRP1 and RasGRP3 involvement in RA pathophysiology. Objectives To measure RasGRP1 and RasGRP3 gene expression level in B and T cells from both RA and spondylarthropathy (SpA) patients compared to healthy controls (HC) in order to confirm their dysregulation in RA. Methods PBMC were isolated from whole venous blood of 24 RA patients (53±15 years old (yo)) with active disease (DAS28=4.98±1.32), 18 patients with active SpA (45±12 yo; BASDAI=55.2±16.1/100) and 19 HC (32±9 yo). After negative cell selection, total RNA from B ant T cells were extracted. Immunofluorescence staining was performed to check the cell purity by flow cytometry. RasGRP1 and RasGRP3 expression levels were measured by qRT-PCR and their transcripts were compared by PCR. Results RasGRP1 was more expressed in T cells than in B cells (x 3.5; p<0.0001) while RasGRP3 was more expressed in B cells than in T cells (x 8; p<0.0001). Moreover, RasGRP1 was significantly overexpressed in T cells from RA (p<0.05) and SpA (p<0.005) patients in comparison with those from HC. Surprisingly, RasGRP1 was also significantly overexpressed in B cells from RA patients (p<0.05) in comparison with those from HC. RasGRP3 expression level was similar in RA or SpA patients and HC whatever the cellular lineage (B and T cells). Moreover, RasGRP1 expression level in T cells was inversely correlated with the disease activity measured by DAS28 in RA patients (p<0.05). Otherwise, two RasGRP1 variants are expressed in T cells from RA patients compared to HC. Moreover, a minority of RA patients have RasGRP3 full length transcript in B cells. Conclusions This study has shown for the first time the overexpression, in human, of RasGRP1 in T cells and of RasGRP3 in B cells. Moreover, RasGRP1 is overexpressed in T and B cells from RA patients and only in T cells from SPA patients. Furthermore, the authors identified differents RasGRP1 variants in B and T cells from RA patients compared to HC; these variants correspond to deletions of exons. Otherwise, the inverse correlation between RasGRP1 expression in T cells from RA patients and disease activity score confirms the hypothesis of RasGRP1 anti-inflammatory role. In addition, expression of RasGRP1 in B cells induces apoptosis of these one. Therefore, specific overexpression of RasGRP1 in B and T cells opens broad perspectives for research and therapy.

The colonies of army ants and some other legionary ant species have single, permanently wingless queens with massive post petioles and large gasters. Such highly modified queens are called dichthadiigynes. This paper presents the unusually rich exocrine gland endowment of dichthadiigynes, which is not found in queens of other ant species. It has been suggested these kinds of glands produce secretions that attract and maintain worker retinues around queens, especially during migration. However, large worker retinues also occur in non-legionary species whose queens do not have such an exuberance of exocrine glands. We argue and present evidence in support of our previously proposed hypothesis that the enormous outfit of exocrine glands found in dichthadiigynes is due to sexual selection mediated by workers as the main selecting agents.

When an antlion captures a foraging ant, the victim's nestmates may display rescue behaviour. This study tested the hypothesis that the expression of rescue behaviour depends on the life expectancy of the captured ant. This hypothesis predicts that the expression of rescue behaviour will be less frequent when the captured ant has a lower life expectancy than when it has a higher life expectancy because such a response would be adaptive at the colony level. Indeed, significant differences were found in the frequency of rescue behaviours in response to antlion victims with differing life expectancies. In agreement with prediction, victims with lower life expectancies were rescued less frequently, and those rescues had a longer latency and shorter duration. There was also a qualitative difference in the behaviour of rescuers to victims from the low and high life expectancy groups. Several explanations for these findings are proposed.

Functional diversity (FD) is an important component of biodiversity that quantifies the difference in functional traits between organisms. However, FD studies are often limited by the availability of trait data and FD indices are sensitive to data gaps. The distribution of species abundance and trait data, and its transformation, may further affect the accuracy of indices when data is incomplete. Using an existing approach, we simulated the effects of missing trait data by gradually removing data from a plant, an ant and a bird community dataset (12, 59, and 8 plots containing 62, 297 and 238 species respectively). We ranked plots by FD values calculated from full datasets and then from our increasingly incomplete datasets and compared the ranking between the original and virtually reduced datasets to assess the accuracy of FD indices when used on datasets with increasingly missing data. Finally, we tested the accuracy of FD indices with and without data transformation, and the effect of missing trait data per plot or per the whole pool of species. FD indices became less accurate as the amount of missing data increased, with the loss of accuracy depending on the index. But, where transformation improved the normality of the trait data, FD values from incomplete datasets were more accurate than before transformation. The distribution of data and its transformation are therefore as important as data completeness and can even mitigate the effect of missing data. Since the effect of missing trait values pool-wise or plot-wise depends on the data distribution, the method should be decided case by case. Data distribution and data transformation should be given more careful consideration when designing, analysing and interpreting FD studies, especially where trait data are missing. To this end, we provide the R package \"traitor\" to facilitate assessments of missing trait data.

In the current revisionary work, the Temnothorax nylanderi species-group of myrmicine ants is characterized. Eighteen species belonging to this group in the Ponto-Mediterranean region are described or redefined based on an integrative approach that combines exploratory analyses of morphometric data and of a 658bp fragment of the mitochondrial gene for the cytochrome c oxidase subunit I (CO I). The species group is subdivided into five species complexes: T. angustifrons complex, T. lichtensteini complex, T. nylanderi complex, T. parvulus complex, T. sordidulus complex, and two species, T. angulinodis sp. n. and T. flavicornis (Emery, 1870) form their own lineages. We describe seven new species (T. angulinodis sp. n., T. angustifrons sp. n., T. ariadnae sp. n., T. helenae sp. n., T. lucidus sp. n., T. similis sp. n., T. subtilis sp. n.), raise T. tergestinus (FINZI, 1928) stat.n. to species level, and propose a new junior synonymy for T. saxonicus (SEIFERT, 1995) syn.n. (junior synonym of T. tergestinus). We describe the worker caste and provide high quality images and distributional maps for all eighteen species. Furthermore, we provide a decision tree as an alternative identification key that visually gives an overview of this species-group. We make the first application to Formicidae of the Semantic Phenotype approach that has been used in previous taxonomic revisions.

Insect societies are complex systems, displaying emergent properties much greater than the sum of their individual parts. As such, the concept of these societies as single 'superorganisms' is widely applied to describe their organisation and biology. Here, we test the applicability of this concept to the response of social insect colonies to predation during a vulnerable period of their life history. We used the model system of house-hunting behaviour in the ant Temnothorax albipennis. We show that removing individuals from directly within the nest causes an evacuation response, while removing ants at the periphery of scouting activity causes the colony to withdraw back into the nest. This suggests that colonies react differentially, but in a coordinated fashion, to these differing types of predation. Our findings lend support to the superorganism concept, as the whole society reacts much like a single organism would in response to attacks on different parts of its body. The implication of this is that a collective reaction to the location of worker loss within insect colonies is key to avoiding further harm, much in the same way that the nervous systems of individuals facilitate the avoidance of localised damage.