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- Abolhassani, H, et al.
(author)
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Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021
- 2022
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In: Frontiers in immunology. - : Frontiers Media SA. - 1664-3224. ; 13, s. 1032358-
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Journal article (peer-reviewed)abstract
- The J Project (JP) physician education and clinical research collaboration program was started in 2004 and includes by now 32 countries mostly in Eastern and Central Europe (ECE). Until the end of 2021, 344 inborn errors of immunity (IEI)-focused meetings were organized by the JP to raise awareness and facilitate the diagnosis and treatment of patients with IEI.ResultsIn this study, meeting profiles and major diagnostic and treatment parameters were studied. JP center leaders reported patients’ data from 30 countries representing a total population of 506 567 565. Two countries reported patients from JP centers (Konya, Turkey and Cairo University, Egypt). Diagnostic criteria were based on the 2020 update of classification by the IUIS Expert Committee on IEI. The number of JP meetings increased from 6 per year in 2004 and 2005 to 44 and 63 in 2020 and 2021, respectively. The cumulative number of meetings per country varied from 1 to 59 in various countries reflecting partly but not entirely the population of the respective countries. Altogether, 24,879 patients were reported giving an average prevalence of 4.9. Most of the patients had predominantly antibody deficiency (46,32%) followed by patients with combined immunodeficiencies (14.3%). The percentages of patients with bone marrow failure and phenocopies of IEI were less than 1 each. The number of patients was remarkably higher that those reported to the ESID Registry in 13 countries. Immunoglobulin (IgG) substitution was provided to 7,572 patients (5,693 intravenously) and 1,480 patients received hematopoietic stem cell therapy (HSCT). Searching for basic diagnostic parameters revealed the availability of immunochemistry and flow cytometry in 27 and 28 countries, respectively, and targeted gene sequencing and new generation sequencing was available in 21 and 18 countries. The number of IEI centers and experts in the field were 260 and 690, respectively. We found high correlation between the number of IEI centers and patients treated with intravenous IgG (IVIG) (correlation coefficient, cc, 0,916) and with those who were treated with HSCT (cc, 0,905). Similar correlation was found when the number of experts was compared with those treated with HSCT. However, the number of patients treated with subcutaneous Ig (SCIG) only slightly correlated with the number of experts (cc, 0,489) and no correlation was found between the number of centers and patients on SCIG (cc, 0,174).Conclusions1) this is the first study describing major diagnostic and treatment parameters of IEI care in countries of the JP; 2) the data suggest that the JP had tremendous impact on the development of IEI care in ECE; 3) our data help to define major future targets of JP activity in various countries; 4) we suggest that the number of IEI centers and IEI experts closely correlate to the most important treatment parameters; 5) we propose that specialist education among medical professionals plays pivotal role in increasing levels of diagnostics and adequate care of this vulnerable and still highly neglected patient population; 6) this study also provides the basis for further analysis of more specific aspects of IEI care including genetic diagnostics, disease specific prevalence, newborn screening and professional collaboration in JP countries.
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- Zhuravleva, Z.D., et al.
(author)
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The role of the medial preoptic area glycinergic system in the social types of behavior regulation
- 2015
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In: Opera Medica et Physiologica. - 2500-2287 .- 2500-2295. ; 1, s. 21-22
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Journal article (peer-reviewed)abstract
- Summary. The medial preoptic nucleus is critically involved in the social type of behavior regulation, such as parental behaviour, social recognition, sexual behaviour, ect.. A big amount of studies are focused on the role of glutamate, GABA, serotonin, and dopamine systems of medial preoptic area (mPOA) in the social types of behaviour regulation. However, the role of glycinergic system in this nucleus has not been investigated.
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- Maccari, Maria Elena, et al.
(author)
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Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
- 2023
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In: The Journal of allergy and clinical immunology. - 1097-6825. ; 152:4
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Journal article (peer-reviewed)abstract
- Activated phosphoinositide-3-kinase δ syndrome (APDS) is an inborn error of immunity (IEI) with infection susceptibility and immune dysregulation, clinically overlapping with other conditions. Management depends on disease evolution, but predictors of severe disease are lacking.This study sought to report the extended spectrum of disease manifestations in APDS1 versus APDS2; compare these to CTLA4 deficiency, NFKB1 deficiency, and STAT3 gain-of-function (GOF) disease; and identify predictors of severity in APDS.Data was collected from the ESID (European Society for Immunodeficiencies)-APDS registry and was compared with published cohorts of the other IEIs.The analysis of 170 patients with APDS outlines high penetrance and early onset of APDS compared to the other IEIs. The large clinical heterogeneity even in individuals with the same PIK3CD variant E1021K illustrates how poorly the genotype predicts the disease phenotype and course. The high clinical overlap between APDS and the other investigated IEIs suggests relevant pathophysiological convergence of the affected pathways. Preferentially affected organ systems indicate specific pathophysiology: bronchiectasis is typical of APDS1; interstitial lung disease and enteropathy are more common in STAT3 GOF and CTLA4 deficiency. Endocrinopathies are most frequent in STAT3 GOF, but growth impairment is also common, particularly in APDS2. Early clinical presentation is a risk factor for severe disease in APDS.APDS illustrates how a single genetic variant can result in a diverse autoimmune-lymphoproliferative phenotype. Overlap with other IEIs is substantial. Some specific features distinguish APDS1 from APDS2. Early onset is a risk factor for severe disease course calling for specific treatment studies in younger patients.
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- Mukhina, Elena, et al.
(author)
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Experimental Modelling of Hydrocarbon Migration Processes
- 2017
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In: Joint AIRAPT-25th and EHPRG-53rd International Conference on High Pressure Science and Technology, 2015. - : Institute of Physics (IOP).
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Conference paper (peer-reviewed)abstract
- One of the most important questions in the frame of the concept of deep abiogenic origin of hydrocarbons is how hydrocarbons generated under the upper mantle conditions could migrate upward to the Earth's crust to form hydrocarbon deposits. Two different ways of fluid migration were proposed and simulated - slow migration during hundreds of years and fast migration-eruption. Influence of the fluid's migration speed on the final hydrocarbon mixture composition was studied. The received results show that the relative chemical composition of the hydrocarbon mixtures probably does not depend on the cooling conditions (the speed of the fluid migration).
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- Mukhina, E, et al.
(author)
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The lower pT limit of deep hydrocarbon synthesis by CaCO3 aqueous reduction
- 2017
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In: Scientific Reports. - : NATURE PUBLISHING GROUP. - 2045-2322. ; 7
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Journal article (peer-reviewed)abstract
- The deep abiogenic synthesis of hydrocarbons is possible under the conditions of the asthenosphere. We have found that this process can also occur under the mineral and thermobaric conditions of subducting slabs. We have investigated the abiogenic synthesis of hydrocarbon systems at pressures of 2.0-6.6 GPa and temperatures of 250-600 degrees C. The determined lower thermobaric limit of the reaction at 280-300 degrees C and 2-3 GPa corresponds to a depth of 70-80 km during cold subduction. The hydrocarbon fluid formed in the slab can migrate upwards through the network of faults and fractures to form petroleum deposits.
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- Zhuravleva, Z.D., et al.
(author)
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Choosing the optimal rat stock as a model for research into pharmacological correction of male sexual dysfunction
- 2021
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In: Sovremennye Tehnologii v Medicine. - : Privolzhsky Research Medical University. - 2076-4243. ; 13:6, s. 36-41
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Journal article (peer-reviewed)abstract
- The aim of the study is to identify the mechanisms mediating differences in sexual behavior between Sprague Dawley and Wistar rats, in order to choose the optimal stock for research into pharmacological correction of male sexual dysfunction. Materials and Methods. The experiments were carried out on sexually mature male rats of two stocks (Sprague Dawley and Wistar) weighing 350–450 g and aged 3 to 6 months. The comparative study of animal behavior was performed using standard tests for social interaction, locomotor activity, and anxiety level, as well as male mating behavior patterns. In order to determine the role of hypothalamic glycine receptors in the male sexual behavior, pharmacological manipulations of glycine receptor activity during mating with receptive females were conducted via bilateral intracerebral microcannulas implanted in the medial preoptic area (mPOA) of the male rat anterior hypothalamus. Results. The obtained results revealed statistically significant inter-stock differences in sexual behavior at the final consummatory stage of both intact animals and those after pharmacological activation of glycine receptors in the mPOA. The number of anxiety-related grooming patterns in the Open Field test significantly differed between the stocks for both intact animals and those after pharmacological activation of glycine receptors; the observed differences disappeared after the mPOA glycine receptors were blocked. In the Crowley test of social interaction, no significant difference was found between the stocks. Thus, the revealed difference in sexual behavior between Sprague Dawley and Wistar male rats is likely due to the difference in the level of anxiety, which, in turn, may be associated with difference in the mechanisms of glycinergic neurotransmission in the hypothalamic mPOAs of these rats. Conclusion. To study the relationship between the level of anxiety and sexual behavior, the choice of the Wistar rat stock is optimal since the male sexual behavior in this stock is more sensitive to stress than that in Sprague Dawley rats. However, to model male sexual dysfunction not associated with anxiety, the use of Sprague Dawley male rats should be preferred as these animals show more stable sexual behavior, which is less dependent on the level of anxiety.
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- Zhuravleva, Z. D., et al.
(author)
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Effects of Glycine Receptors of the Medial Preoptic Nucleus on Sexual Behavior of Male Wistar Rats
- 2020
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In: Bulletin of experimental biology and medicine. - : Springer. - 0007-4888 .- 1573-8221. ; 169:3, s. 299-301
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Journal article (peer-reviewed)abstract
- We studied the effect of bilateral microinjections of selective pharmacological agents modulating glycine receptor activity into the medial preoptic nucleus on sexual behavior of male Wistar rats. Application of the glycine receptor blocker strychnine (20 μM, 2 μl) led to a significant inhibition of both appetitive and consummatory components of sexual behavior, whereas stimulation with glycine (1 mM and 50 μM, 2 μl) had no significant effect.
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