scholarly journals Clinical Genealogical and Epigenetic Examination of Patients with Juvenile Epiphysiolysis of the Femoral Head

Author(s):  
Ye.L. Holiuk ◽  
M.S. Kabatsii ◽  
V.V. Filipchuk ◽  
M.V. Melnyk ◽  
N.Yu. Lukianova

Summary. Slipped capital femoral epiphysis (SCFE) is a multifactorial disease caused by a number of factors, and each of them can be triggered in its occurrence. Modern research is increasingly pointing to the leading role of epigenetic structures in the origin and course of this group of diseases. In recent years, the most promising area is the study of the role of microRNAs as an epigenetic factor that plays a leading role in the pathogenesis of multifactorial diseases. Objective: to develop a methodology for genetic genealogical examination of patients with juvenile epiphysiolysis of the femoral head. Materials and Methods. The study material was 26 patients with SCFE (15 girls and 11 boys) in different periods of sexual development: prepuberty – 7 patients, induction of puberty – 12 patients, and puberty and postpuberty – 7 patients. A questionnaire developed by us was used for clinical and genealogical research of the patients. The material for the epigenetic study, namely the study of microRNA-21 expression in patients with SCFE, was venous blood. Results. The expression of microRNA-21 in the blood of patients with SCFE is different (average expression is 0.86 conventional units) from those of healthy donors (average 0.393 conventional units) of the same age (p<0.05). Analysis of dependence on the period of sexual development revealed statistical differences in indicators depending on the group (p<0.05). No dependence of the level of microRNA-21 expression in patients with SCFE on sex and the period before or after surgery (p>0.05) was revealed. The obtained data on the probability of the influence of hereditary factors on the occurrence of SCFE are statistically significant (p<0.05). Conclusions. Our results of epigenetic and clinical genealogical research of patients with SCFE showed a high probability of influence of hereditary and epigenetic factors on the occurrence and course of this disease.

2012 ◽  
Vol 33 (4) ◽  
pp. 215-221 ◽  
Author(s):  
S. Samara ◽  
P. Kollia ◽  
Z. Dailiana ◽  
C. Chassanidis ◽  
L. Papatheodorou ◽  
...  

Introduction: Osteonecrosis (ON) is a multifactorial disease that leads to hip destruction. Lately, much focus has been at femoral head preservation with nonsurgical methods. In this study we examined the polymorphisms of IL-1α, IL-1R, IL-1RA, IL-4Rα, IL-1β, IL-12,γIFN, TGF-β, TNF-a, IL-2, IL-4, IL-6 and IL-10 genes for evaluation of their contribution in ON.Material and methods: DNA was extracted from 112 ON patients and 438 healthy donors. Analysis of the polymorphisms was completed using the PCR-SSP method. Statistical analysis was performed using theχ2test to compare the genotype and allelic frequency distribution.Results: The CT and GA genotypes of the IL-1α(-889) and TNF-a (-238) genes were found higher in the patients (51.8% and 10.8%, respectively) compared to the healthy donors (39.7% and 2.1%, respectively). In TGF-βcodon 25, the G to C polymorphism in the homozygous state was found in 1.8% of the patients and the C allele frequency was 8.9%, whereas the G allele frequency was 91.1%. Also, at the IL-10 (-1082) gene the GG genotype was 16.2% in the controls whereas in the patients was 7.2%.Conclusions: Based on the above, we showed that certain genotypes of the IL-1α, TGF-β, IL-10 and TNF-a genes could be related in the pathogenesis of a complicated disease, such as osteonecrosis. The presence of one of the above mentioned polymorphisms or the simultaneous carriage of more than one may further increase the risk for osteonecrosis, especially in those at high risk, such as patients receiving corticosteroids.


2019 ◽  
pp. 22-29
Author(s):  
Н. В. Фрадкіна

The purpose and tasks of the work are to analyze the contemporary Ukrainian mass culture in terms of its value and humanistic components, as well as the importance of cultural studies and Ukrainian studies in educational disciplines for the formation of a holistic worldview of modern youth.Analysis of research and publications. Scientists repeatedly turned to the problems of the role of spirituality in the formation of society and its culture. This problem is highlighted in the publications by O. Losev, V. Lytvyn, D. Likhachev, S. Avierintsev, M. Zakovych, I. Stepanenko and E. Kostyshyn.Experts see the main negative impact of mass culture on the quality approach, which determines mass culture through the market, because mass culture, from our point of view, is everything that is sold and used in mass demand.One of the most interesting studies on this issue was the work by the representatives of Frankfurt School M. Horkheimer and T. Adorno «Dialectics of Enlightenment» (1947), devoted to a detailed analysis of mass culture. Propaganda at all socio-cultural levels in the form is similar in both totalitarian and democratic countries. It is connected, according to the authors, with the direction of European enlightenment. The tendency to unify people is a manifestation of the influence of mass culture, from cinema to pop. Mass culture is a phenomenon whose existence is associated with commerce (accumulation in any form – this is the main feature of education), in general, the fact that it exists in this form is related to the direction of the history of civilization.Modern mass culture, with its externally attractive and easily assimilated ideas and symbols, appealing to the trends of modern fashion, becomes a standard of prestigious consumption, does not require intense reflection, allows you to relax, distract, not teach, but entertains, preaches hedonism as the main spiritual value. And as a consequence, there are socio-cultural risks: an active rejection of other people, which leads to the formation of indifference; cruelty as a character trait; increase of violent and mercenary crime; increase in the number of alcohol and drug addicts; anti-patriotism; indifference to the values of the family and as a result of social orphanhood and prostitution.Conclusions, perspectives of research. Thus, we can conclude that modern Ukrainian education is predominantly formed by the values of mass culture. Namely, according to the «Dialectic» by Horkheimer and Adorno, «semi-enlightenment becomes an objective spirit» of our modern society.It is concluded that only high-quality education can create the opposite of the onset of mass culture and the destruction of spirituality in our society. It is proved that only by realizing the importance of cultivating disciplines in the educational process and the spiritual upbringing of the nation, through educational reforms, humanitarian knowledge will gradually return to student audiences.Formation of youth occurs under the influence of social environment, culture, education and self-education. The optimal combination of these factors determines both the process of socialization itself and how successful it will be. In this context, one can see the leading role of education and upbringing. It turns out that the main task of modern education is to spread its influence on the development of spiritual culture of the individual, which eventually becomes a solid foundation for the formation of the individual. Such a subject requires both philosophical and humanitarian approaches in further integrated interdisciplinary research, since the availability of such research will provide the theoretical foundation for truly modern educational and personal development.


1991 ◽  
Vol 18 (3) ◽  
pp. 333-362 ◽  
Author(s):  
MADELEINE LY-TIO-FANE

SUMMARY The recent extensive literature on exploration and the resulting scientific advances has failed to highlight the contribution of Austrian enterprise to the study of natural history. The leading role of Joseph II among the neutral powers which assumed the carrying trade of the belligerents during the American War of Independence, furthered the development of collections for the Schönbrunn Park and Gardens which had been set up on scientific principles by his parents. On the conclusion of peace, Joseph entrusted to Professor Maerter a world-encompassing mission in the course of which the Chief Gardener Franz Boos and his assistant Georg Scholl travelled to South Africa to collect plants and animals. Boos pursued the mission to Isle de France and Bourbon (Mauritius and Reunion), conveyed by the then unknown Nicolas Baudin. He worked at the Jardin du Roi, Pamplemousses, with Nicolas Cere, or at Palma with Joseph Francois Charpentier de Cossigny. The linkage of Austrian and French horticultural expertise created a situation fraught with opportunities which were to lead Baudin to the forefront of exploration and scientific research as the century closed in the upheaval of the Revolutionary Wars.


2020 ◽  
pp. 81-92
Author(s):  
Andrey Ivanovich Shutenko ◽  
◽  
Elena Nikolaevn Shutenko ◽  
Julia Petrovna Derevyanko ◽  
◽  
...  

The article is devoted to the problem of educational communications development as a sphere of implementation of modern information-communication technologies in the higher education system. The purpose of the article is to present the structure and functions of educational communications aimed at the development of personal potential and self-realization of students. Methodology. The study is based on the methodology of personal and communicative-informational approaches in education, psychological-pedagogical provisions on the structure of communication, the leading role of learning activity, didactic principles of building an educational-informational environment. In theoretical terms, the study is based on the idea of the indirect implementation of ICT in education through the development of educational communications. The developing structure of educational communications, including didactic, informational-gnostic, interactive, psychological, attractive-motivational, value-semantic components, is presented. The possibilities of developing personal potential in educational communications are considered. The author’s developmental model of ICT functions is presented, which includes clusters of actual and latent functions aimed at the formation of information-educational space for the development of students’ personal potential. In conclusion, a inference was made about the prospects of the indirect introduction of modern ICT as tools for the development and functioning of various educational communications. At the same time, it is essential that these communications perform psychological and pedagogical tasks and functions.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 23.2-24
Author(s):  
Y. P. Tsao ◽  
F. Y. Tseng ◽  
C. W. Chao ◽  
M. H. Chen ◽  
S. T. Chen

Background:Systemic lupus erythematous (SLE) is a systemic autoimmune disease with diverse etiological factors. It was recognized that interferon (IFN) signature involved in the progress of SLE. NLRP12 (NOD-like receptor family (NLR) pyrin domain containing 12) is a pyrin containing NLR protein that we had linked its new biological function to the cross-regulation of Toll like receptor (TLRs) and Rig-I like receptor (RIG-I) pathways. NLPR12 acts as an innate immune check-point in regulating type I IFNs expression during TLRs and RIG-I activation. The importance of NLRP12 in lupus disease activity remained to be elucidated.Objectives:To clarify the role of NLRP12 in regulating the interferon signature.Methods:Peripheral blood mononuclear cells (PBMCs) were collected from SLE patients and healthy donors for analysis of NLRP12 and IFN-α gene expression by RT-QPCR. PBMCs were applied for Chromatin immuneprecipitation (ChIP) assay and electrical mobility shift assay (EMSA) to determine the putative transcription factor that regulates NLRP12 expression. An involvement of epigenetic regulation of NLRP12 expression in SLE patients was also analyzed. Bone marrow derived dendritic cells (BMDCs) were collected from wild type mouse and Nlrp12 knocked-out mice. Another CD14+ monocytes were isolated from 10 cases of lupus patients and 8 cases of healthy control, following by stimulating different type of nucleic acids, and IFN-α and IL-6 were measured with ELISA assay. CD14+ monocytes in lupus patients were also pre-treated with IFNAR2 antibody for further nucleic acid stimulation. Two mice models were applied for evaluation the role of Nlrp12: intraperitoneal injection of TMPD (2,6,10,14-tetramethylpentadecane, or pristane) in C57BL/6 mice and Faslpr mice. Both models were conducted with and without Nlrp12 knockout.Results:NLRP12 expression was significantly lower in PBMC isolated from SLE patients compared to healthy donors. The inverse correlation was observed in NLRP12 and IFNA gene expression as well as NLRP12 expression and amount of double-stranded DNA autoantibody in SLE patients. NLRP12 expression showed negative correlations with IFN-α treatment, as well as herpes simplex virus-1 (HSV-1) infection. Results from ChIP and EMSA analysis indicated a potential transcription factor 1 (TF-1) regulating NLRP12 promoter activity. TF-1 lead to transcriptional suppression of NLRP12 in SLE PBMC, and it was gradually induced after IFN treatment. Recruitment of TF-1 to NLRP12 promoter in SLE PBMC compared to the healthy PBMC was detected, and increased when treating with IFN. Human CD14+ monocytes collected from lupus and healthy control stimulating with different type of nucleic acids revealing significant increasing level of IFN-α and IL-6 in lupus patients. Among animal models, both pristine induced mice and Faslpr mice revealed increasing autoantibodies production and severity of glomerulonephritis in Nlrp12-/- group in comparison with Nlrp12+/+ ones, indicating the role of NLRP12 in maintaining positive interferon signature as well as disease activity.Conclusion:Expression level of NLRP1.2 has been demonstrated to be a biomarker of disease activity in SLE patients. The NLRP12 was involved in the interferon signature, which was also negatively regulated by TF-1. Both clinical samples and animal models revealed NLRP12 in maintaining the positive interferon signature, indicating the possible role of exacerbating factor for lupus disease activity.Disclosure of Interests:None declared


Animals ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 1515
Author(s):  
Marissa L. Parrott ◽  
Leanne V. Wicker ◽  
Amanda Lamont ◽  
Chris Banks ◽  
Michelle Lang ◽  
...  

Modern zoos are increasingly taking a leading role in emergency management and wildlife recovery. In the face of climate change and the predicted increase in frequency and magnitude of catastrophic events, zoos provide specialised expertise to assist wildlife welfare and endangered species recovery. In the 2019–2020 Australian bushfire season, now called Australia’s Black Summer, a state government-directed response was developed, assembling specialised individuals and organisations from government, non-government organisations, research institutions, and others. Here, we detail the role of Zoos Victoria staff in wildlife triage and welfare, threatened species evacuation and recovery, media and communications, and fundraising during and after the fires. We share strategies for future resilience, readiness, and the ability to mobilise quickly in catastrophic events. The development of triage protocols, emergency response kits, emergency enclosures, and expanded and new captive breeding programs is underway, as are programs for care of staff mental health and nature-based community healing for people directly affected by the fires. We hope this account of our response to one of the greatest recent threats to Australia’s biodiversity, and steps to prepare for the future will assist other zoos and wildlife organisations around the world in preparations to help wildlife before, during, and after catastrophic events.


Genetics ◽  
1996 ◽  
Vol 144 (4) ◽  
pp. 1437-1444
Author(s):  
C Ian Robertson ◽  
Kirk A Bartholomew ◽  
Charles P Novotny ◽  
Robert C Ullrich

The Aα locus is one of four master regulatory loci that determine mating type and regulate sexual development in Schizophyllum commune. We have made a plasmid containing a URA1 gene disruption of the Aα Y1 gene. Y1 is the sole Aα gene in Aα1 strains. We used the plasmid construction to produce an Aα null (i.e., AαΔ) strain by replacing the genomic Y1 gene with URA1 in an Aα1 strain. To characterize the role of the Aα genes in the regulation of sexual development, we transformed various Aα Y and Z alleles into AαΔ strains and examined the acquired mating types and mating abilities of the transformants. These experiments demonstrate that the Aα Y gene is not essential for fungal viability and growth, that a solitary Z Aα mating-type gene does not itself activate development, that Aβ proteins are sufficient to activate the A developmental pathway in the absence of Aα proteins and confirm that Y and Z genes are the sole determinants of Aα mating type. The data from these experiments support and refine our model of the regulation of A-pathway events by Y and Z proteins.


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