DiGeorge syndrome (DGS) presents with a wide spectrum of thymic pathologies. Nationwide neonatal screening programs of lymphocyte production using T-cell recombination excision circles (TREC) have ...repeatedly identified patients with DGS. We tested what proportion of DGS patients could be identified at birth by combined TREC and kappa-deleting element recombination circle (KREC) screening. Furthermore, we followed TREC/KREC levels in peripheral blood (PB) to monitor postnatal changes in lymphocyte production.
TREC/KREC copies were assessed by quantitative PCR (qPCR) and were related to the albumin control gene in dry blood spots (DBSs) from control (n = 56), severe immunodeficiency syndrome (SCID, n = 10) and DGS (n = 13) newborns. PB was evaluated in DGS children (n = 32), in diagnostic samples from SCID babies (n = 5) and in 91 controls.
All but one DGS patient had TREC levels in the normal range at birth, albeit quantitative TREC values were significantly lower in the DGS cohort. One patient had slightly reduced KREC at birth. Postnatal DGS samples revealed reduced TREC numbers in 5 of 32 (16%) patients, whereas KREC copy numbers were similar to controls. Both TREC and KREC levels showed a more pronounced decrease with age in DGS patients than in controls (p < 0.0001 for both in a linear model). DGS patients had higher percentages of NK cells at the expense of T cells (p < 0.0001). The patients with reduced TREC levels had repeated infections in infancy and developed allergy and/or autoimmunity, but they were not strikingly different from other patients. In 12 DGS patients with paired DBS and blood samples, the TREC/KREC levels were mostly stable or increased and showed similar kinetics in respective patients.
The combined TREC/KREC approach with correction via control gene identified 1 of 13 (8%) of DiGeorge syndrome patients at birth in our cohort. The majority of patients had TREC/KREC levels in the normal range.
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GATA-2 deficiency was recently described as common cause of overlapping syndromes of immunodeficiency, lymphedema, familiar myelodysplastic syndrome or acute myeloid leukemia. The aim of our study ...was to analyze bone marrow and peripheral blood samples of children with myelodysplastic syndrome or aplastic anemia to define prevalence of the GATA2 mutation and to assess whether mutations in GATA-2 transcription factor exhibit specific immunophenotypic features. The prevalence of a GATA2 mutation in a consecutively diagnosed cohort of children was 14% in advanced forms of myelodysplastic syndrome (refractory anemia with excess blasts, refractory anemia with excess blasts in transformation, and myelodysplasia-related acute myeloid leukemia), 17% in refractory cytopenia of childhood, and 0% in aplastic anemia. In GATA-2-deficient cases, we found the most profound B-cell lymphopenia, including its progenitors in blood and bone marrow, which correlated with significantly diminished intronRSS-Kde recombination excision circles in comparison to other myelodysplastic syndrome/aplastic anemia cases. The other typical features of GATA-2 deficiency (monocytopenia and natural killer cell lymphopenia) were less discriminative. In conclusion, we suggest screening for GATA2 mutations in pediatric myelodysplastic syndrome, preferentially in patients with impaired B-cell homeostasis in bone marrow and peripheral blood (low number of progenitors, intronRSS-Kde recombination excision circles and naïve cells).
Waterway Agenda Information System Jurkovič, Martin; Kalina, Tomáš
NAŠE MORE,
02/2021, Volume:
68, Issue:
1
Journal Article, Web Resource
Peer reviewed
Open access
Informatisation of the public administration of the Slovak Republic aims to create a functional architecture of the integrated information system. This system also includes the development of Agenda ...information systems that provide electronic services in the most automated mode, according to the principle all at once. In the field of water transport, there is currently no fully functional agenda information system. Creating an Agenda Information System (AIS) will allow multi-channel electronic access to public transport services in water transport. The complex information solution of the water transport agenda will be digitalized for individual applications and submissions. Part of the Waterway Agenda Information System will also be the establishment of a client zone, an online tool that will provide online information for users and providers. This tool will allow personalized client notifications that simplify the process for all parties involved (public administration, entrepreneurs, or individuals).
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The presented manuscript discusses a specific research study examining several variants of liquefied natural gas (LNG) carriage from chosen seaports to the port of Bratislava using the Danube ...waterway, assessing them using chosen multi-criteria analysis techniques. Two ports in Turkey and one port in Georgia are deemed export terminals. A total of twelve variants are compared, whereby the comparison is carried out based on multiple evaluation criteria defined by a panel of experts who laid particular stress on their importance. An economic calculation is performed in the first phase to assess LNG carriage in all the variants. This represents the very foundation for the multi-criteria evaluation, which is conducted using Multi-Criteria Decision Analysis (MCDA) and the Technique for Order of Preference by Similarity to Ideal Solution (TOPSIS). The evaluated variants differ not only in terms of export port location, but also in relation to transport technology. As for the second phase, four distinct technologies in three different scenarios are assessed—specifically, Small-Scale (SS) LNG-C tankers—while two modes of operation (i.e., time-charter, own tanker) and a river-sea LNG tanker with an LNG barge in two versions are considered. The first version considers the use of Marine Gasoil (MGO) fuel, while the second one considers LNG use. The results obtained provide interesting findings, wherein two out of three applied methods prefer the same transport option. Thus, it can be stated that our study presents a unique approach by comparing different scenarios of LNG distribution as a commodity inland along the river Danube, specifically to Central Europe, from a variety of standpoints. The manuscript evaluates carriage using traditional MGO fuels as well as alternative LNG fuels, and also brings a comparison from a technological point of view.
The number of road traffic accidents in the world has been increasing. This is mainly related to the constant increase in road traffic. The aim of this article is to examine the causes of road ...accidents in Poland in terms of road traffic safety. For this purpose, road incidents that occurred in Poland were analysed. In order to verify the presented statistical data on the state of safety in Poland, a survey was carried out to indicate the factors that most often cause traffic accidents. Possibilities for increasing the efficiency of traffic safety and an evaluation of the level of safety in vehicles were also part of the survey. The results showed that the state of RS, in the opinion of the respondents, is poor. The respondents correctly indicated the most frequent causes of road accidents, which confirms their knowledge in the field of road safety. The survey also showed that the activities of the police and programmes for increasing safety need improvement. According to the respondents, the actions that should be taken to improve safety are, first of all, the improvement of the technical condition of roads and the modernisation of road infrastructure. In addition, the survey showed that most men are car drivers, while women primarily travel on foot; the results also showed that the knowledge of RS is better among women.
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The green algal family Chlorochytriaceae comprises relatively large coccoid algae with secondarily thickened cell walls. Despite its morphological distinctness, the family remained molecularly ...uncharacterized. In this study, we investigated the morphology and phylogenetic position of 16 strains determined as members of two Chlorochytriaceae genera, Chlorochytrium and Scotinosphaera. The phylogenetic reconstructions were based on the analyses of two data sets, including a broad, concatenated alignment of small subunit rDNA and rbcL sequences, and a 10‐gene alignment of 32 selected taxa. All analyses revealed the distant relation of the two genera, segregated in two different classes: Chlorophyceae and Ulvophyceae. Chlorochytrium strains were inferred in two distinct clades of the Stephanosphaerinia clade within the Chlorophyceae. Whereas clade A morphologically fits the description of Chlorochytrium, the strains of clade B coincide with the circumscription of the genus Neospongiococcum. The Scotinosphaera strains formed a distinct and highly divergent clade within the Ulvophyceae, warranting the recognition of a new order, Scotinosphaerales. Morphologically, the order is characterized by large cells bearing local cell wall thickenings, pyrenoid matrix dissected by numerous anastomosing cytoplasmatic channels, sporogenesis comprising the accumulation of secondary carotenoids in the cell periphery and almost simultaneous cytokinesis. The close relationship of the Scotinosphaerales with other early diverging ulvophycean orders enforces the notion that nonmotile unicellular freshwater organisms have played an important role in the early diversification of the Ulvophyceae.
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BFBNIB, DOBA, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, UILJ, UKNU, UL, UM, UPUK
Abstract Purpose Patients with DiGeorge syndrome suffer from T-lymphopenia. T-cells are important for the maturation and regulation of B-cell function. Our aim was to characterize the B-cell ...compartment in DiGeorge syndrome patients. Methods B-cell subset phenotypization using flow cytometry. Serum BAFF (B-cell activating factor) and serum anti-alpha-galactosyl IgM measurement using ELISA. Serum IgG measurement using nephelometry. Results We observed a significantly increased number of naïve B-cells and decreased number of switched memory B-cells in DiGeorge patients. Furthermore, we observed increased BAFF levels and a trend toward hypergammaglobulinemia later in life. Surprisingly, we detected a decrease in marginal zone-like (MZ-like) B-cells and natural antibodies in DiGeorge patients. Conclusion The maturation of B-cells is impaired in DiGeorge patients, with high naïve and low switched memory B-cell numbers being observed. There is a clear trend toward hypergammaglobulinemia later in life, coupled with increased serum BAFF levels. Surprisingly, the T-independent humoral response is also impaired, with low numbers of MZ-like B-cell and low levels of anti-alpha-galactosyl IgM natural antibodies being detected.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
In Special Olympics, athletes' foot deformities, abnormal postural patterns and overweight and obesity were observed to be more common than in the general population. Therefore, the purpose of this ...study was to analyze the relationship between body composition and foot posture index. Additionally, the effect of gender and other factors on the body composition and foot posture index in athletes with intellectual disability (ID) were analyzed.
131 athletes with ID participated in this study: 36 table tennis players, 66 cross country skiers and 29 downhill skiers. Their body composition was assessed using the bioimpedance analysis InBody 230 (Biospace, Korea). The foot screening included the assessment of foot posture index, which evaluates the degree of pronated, supinated and neutral position of the foot, gait speed and the last part of the procedure consisted of a short questionnaire, providing the information about the type of housing, age, and the usage of orthotics.
A low correlation between body composition and some of the foot posture index criteria was observed. The mean foot posture index score in athletes with ID was observed to be slightly pronated, as also described in the general population, with no statistically significant difference between female and male athletes. The gender differences were observed only in body composition.
The high body weight and body fat percentage observed in this study highlight the need for healthy lifestyle education in athletes with ID.
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