Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature

<p>Abstract</p> <p>Background</p> <p>Autosomal monosomies in human are generally suggested to be incompatible with life; however, there is quite a number of cytogenetic reports describing full monosomy of one chromosome 21 in live born children. Here, we report a cytogenetically similar case associated with congenital malformation including mental retardation, motor development delay, craniofacial dysmorphism and skeletal abnormalities.</p> <p>Results</p> <p>Initially, a full monosomy of chromosome 21 was suspected as only 45 chromosomes were present. However, molecular cytogenetics revealed a de novo unbalanced translocation with a der(7)t(7;21). It turned out that the translocated part of chromosome 21 produced GTG-banding patterns similar to original ones of chromosome 7. The final karyotype was described as 45,XX,der(7)t(7;21)(q34;q22.13),-21. As a meta analysis revealed that clusters of the olfactory receptor gene family (ORF) are located in these breakpoint regions, an involvement of OFR in the rearrangement formation is discussed here.</p> <p>Conclusion</p> <p>The described clinical phenotype is comparable to previously described cases with ring chromosome 21, and a number of cases with del(7)(q34). Thus, at least a certain percentage, if not all full monosomy of chromosome 21 in live-borns are cases of unbalanced translocations involving chromosome 21.</p

Low-Energy Theorems from Holography

In the context of gauge/gravity duality, we verify two types of gauge theory low-energy theorems, the dilation Ward identities and the decoupling of heavy flavor. First, we provide an analytic proof of non-trivial dilation Ward identities for a theory holographically dual to a background with gluon condensate (the self-dual Liu--Tseytlin background). In this way an important class of low-energy theorems for correlators of different operators with the trace of the energy-momentum tensor is established, which so far has been studied in field theory only. Another low-energy relationship, the so-called decoupling theorem, is numerically shown to hold universally in three holographic models involving both the quark and the gluon condensate. We show this by comparing the ratio of the quark and gluon condensates in three different examples of gravity backgrounds with non-trivial dilaton flow. As a by-product of our study, we also obtain gauge field condensate contributions to meson transport coefficients.Comment: 32 pages, 4 figures, two references added, typos remove

Метилмалоновая ацидурия у детей: клинические рекомендации

Methylmalonic acidemia (aciduria) is an inherited metabolic disturbance from the group of organic acidemias (acidurias). The article presents etiopathogenetic, epidemiological, diagnostic, and therapeutic aspects of the problem. The possibilities of laboratory and instrumental diagnostic methods the tactics of dietary correction of metabolic disorders in acute and interstitial periods of the disease are described in details; features of drug treatment are outlined. The necessary information for clinical practice and patients’ everyday life is given in the article.Метилмалоновая ацидемия (ацидурия) — генетически гетерогенное наследственное заболевание группы органических ацидемий (ацидурий). В статье представлены этиопатогенетические, эпидемиологические, диагностические и терапевтические аспекты данной проблемы. Подробно освещены возможности лабораторных и инструментальных методов диагностики и особенности медикаментозного лечения, изложена тактика диетической коррекции метаболических нарушений в острый и межприступный периоды заболевания. Дана необходимая информация для практических врачей и родителей пациентов

Rationale for the Method of Hardening Fine-Grained Gears Drive Executive Automation Devices Spacecraft

Приведен анализ причин, влияющих на обеспечение функциональных характеристик мелкомодульных зубчатых колёс для обоснования и выбора способов упрочнения при проектировании приводов устройств исполнительной автоматики космических аппаратов.It is given the analysis of reasons, which influence on providing of functional characteristics of smallmodule gear wheels for the basing and the choice of hardening methods at designing of drives of arrangements of executive automatics of space devices

Sociological Research on Self-Employed Respondents in the Context of Developing Self-Employed Citizens’ Education Management in the Conditions of Digitalization

The authors’ goal has been to show the need to improve both the general level of education of self-employed citizens, and, mainly, the actual level of specialized competencies. The modern world does not tolerate an unskilled approach in any business. Therefore, special education for self-employed citizens is their internal need that has direct impact on their well-being and relevance in the modern labor market. Real digital technologies aim at improving comfort for self-employed citizens while realizing their need in specialized education. For efficient forecasting, the inductive analysis method has been chosen. This is when the current and previous situations in the self-employed market are examined, then the main factors of the market development are revealed, and the main reasons for the formalization of self-employment are considered. Based on this, the prospects for increasing the self-employed citizens’ groups as consumers of general and specialized education are defined. Sociological instruments of this study include expert surveys, in-depth interviews, analysis of Internet publications of central print media, and content analysis. The main results of the study are as follows: • There is an exponential increase in the number of registered self-employed citizens – consumers of specialized education in the medium term. • Self-employed citizens specializing in such areas as IT, tutoring, online courses, beauty industry may become the most promising in the market of additional specialized education. • Self-employed citizens aged 35 – 45 are the most promising in the market of general education, mainly in pension legislation. • The accessibility of self-employed citizens as potential consumers of educational services can be ensured mainly through their official registration. The official registration of self-employed citizens can be stimulated by a) more favorable tax regimes for self-employed citizens, b) a simplified registration procedure, and c) the introduction of harsh administrative penalties for evading the registration

Rationale for the Method of Hardening Fine-Grained Gears Drive Executive Automation Devices Spacecraft

Приведен анализ причин, влияющих на обеспечение функциональных характеристик мелкомодульных зубчатых колёс для обоснования и выбора способов упрочнения при проектировании приводов устройств исполнительной автоматики космических аппаратов.It is given the analysis of reasons, which influence on providing of functional characteristics of smallmodule gear wheels for the basing and the choice of hardening methods at designing of drives of arrangements of executive automatics of space devices

Structural, electrical and gas-sensitive properties of Cr2O3 thin films

Cr2O3 thin films were synthesized by RF magnetron sputtering of a Cr target in an oxygen-argon plasma. The effect of annealing temperature on the structural, electrical, and gas-sensitive properties of the Cr2O3 thin films was studied. According to AFM, SEM, XRD, EDX, XPS, optical spectroscopy and electrical measurements the annealed films were characterized by a polycrystalline structure, high stoichiometry, p-type conductivity and a band gap energy of 3.3 ± 0.2 eV. An increase in the annealing temperature from 350 to 450 °C leads to formation of Cr2O3 grains with a diameter from 30 to 130 nm and to a significant increase in the film electrical resistance. Cr2O3 demonstrated sensitivity to NO2, H2, NH3, vapors of acetone and toluene in the heating temperature range of 25–200 °C. Changing the annealing temperature allows to control the sensitivity of the films to certain gases. Thus, Cr2O3 thin films subjected to annealing at a temperature of 450 °C were characterized by a high response to NH3, while those annealed at a temperature of 400 °C – to toluene vapors and that annealed at 350 °C – to NO2 and acetone vapors. A qualitative model of the sensory effect was proposed

Trifluoromethylation of Aryl and Heteroaryl Halides with Fluoroform-Derived CuCF₃: Scope, Limitations, and Mechanistic Features

Fluoroform-derived CuCF₃ recently discovered in our group exhibits remarkably high reactivity toward aryl and heteroaryl halides, performing best in the absence of extra ligands. A broad variety of iodoarenes undergo smooth trifluoro­methylation with the “ligandless” CuCF₃ at 23–50 °C to give the corresponding benzotrifluorides in nearly quantitative yield. A number of much less reactive aromatic bromides also have been trifluoromethylated, including pyridine, pyrimidine, pyrazine, and thiazole derivatives as well as aryl bromides bearing electron-withdrawing groups and/or ortho substituents. Only the most electrophilic chloroarenes can be trifluoromethylated, e.g., 2-chloronicotinic acid. Exceptionally high chemoselectivity of the reactions (no side-formation of arenes, biaryls, and C₂F₅ derivatives) has allowed for the isolation of a large number of trifluoromethylated products in high yield on a gram scale (up to 20 mmol). The CuCF₃ reagent is destabilized by CuX coproduced in the reaction, the magnitude of the effect paralleling the Lewis acidity of CuX: CuCl > CuBr > CuI. While S_NAr and S_RN1 mechanisms are not operational, there is a well-pronounced ortho effect, i.e., the enhanced reactivity of ortho-substituted aryl halides 2-RC₆H₄X toward CuCF₃. Intriguingly, this ortho-effect is observed for R = NO₂, COOH, CHO, COOEt, COCH₃, OCH₃, and even CH₃, but not for R = CN. The fluoroform-derived CuCF₃ reagent and its reactions with haloarenes provide an unmatched combination of reactivity, selectivity, and low cost

Trifluoromethylation of Aryl and Heteroaryl Halides with Fluoroform-Derived CuCF₃: Scope, Limitations, and Mechanistic Features

Fluoroform-derived CuCF₃ recently discovered in our group exhibits remarkably high reactivity toward aryl and heteroaryl halides, performing best in the absence of extra ligands. A broad variety of iodoarenes undergo smooth trifluoro­methylation with the “ligandless” CuCF₃ at 23–50 °C to give the corresponding benzotrifluorides in nearly quantitative yield. A number of much less reactive aromatic bromides also have been trifluoromethylated, including pyridine, pyrimidine, pyrazine, and thiazole derivatives as well as aryl bromides bearing electron-withdrawing groups and/or ortho substituents. Only the most electrophilic chloroarenes can be trifluoromethylated, e.g., 2-chloronicotinic acid. Exceptionally high chemoselectivity of the reactions (no side-formation of arenes, biaryls, and C₂F₅ derivatives) has allowed for the isolation of a large number of trifluoromethylated products in high yield on a gram scale (up to 20 mmol). The CuCF₃ reagent is destabilized by CuX coproduced in the reaction, the magnitude of the effect paralleling the Lewis acidity of CuX: CuCl > CuBr > CuI. While S_NAr and S_RN1 mechanisms are not operational, there is a well-pronounced ortho effect, i.e., the enhanced reactivity of ortho-substituted aryl halides 2-RC₆H₄X toward CuCF₃. Intriguingly, this ortho-effect is observed for R = NO₂, COOH, CHO, COOEt, COCH₃, OCH₃, and even CH₃, but not for R = CN. The fluoroform-derived CuCF₃ reagent and its reactions with haloarenes provide an unmatched combination of reactivity, selectivity, and low cost