B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a frequent type of childhood hematological malignancy. The disease is classified into several subtypes according to genetic abnormalities. MicroRNAs (miRNAs) are involved in pathological processes (e.g., proliferation, apoptosis, differentiation). A miRNA is a group of short non-coding RNAs with relevant regulatory effects on gene expression achieved by suppression of the translation or degradation of messenger RNA (mRNA). These molecules act as tumor suppressors and/or oncogenes in the pathogenesis of pediatric leukemias. The characteristic features of miRNAs are their stable form and the possibility of secretion to the circulatory system. The role of miRNA in BCP-ALL pathogenesis is still emerging, but several studies have suggested using miRNA expression profiles as biomarkers for diagnosis, prognosis, and response to therapy in leukemia. The dysregulation of some miRNAs involved in childhood acute lymphoid leukemia, such as miR-155, miR-200c, miR-100, miR-181a, miR125b, and miR146a is discussed, showing their possible employment as therapeutic targets. In the current review, the capabilities of miRNAs in non-invasive diagnostics and their prognostic potential as biomarkers are presented.
The subject of the work concerns the dermatological management of patients mainly with aged skin. The purpose of the work was to present the basic techniques and preparations which are performed by dermatologists in the treatment of aged skin. There are dermatological treatments related to the treatment of skin diseases and cosmetic treatments which are mainly related to skin care. In this work, the method of literature research was applied. On the basis of books and journal articles on dermatological and cosmetic procedures for aged skin, an analysis of treatment types was made. Then, the results of this analysis were presented in the paper under discussion. The paper presents information on the skin and its properties. The structure and functions of the skin, aging processes and characteristics of aged skin were discussed. Then, the possibilities of reducing the visible signs of skin aging through the use of invasive and non-invasive dermatological and cosmetological treatments were given, and the most important components of preparations used supportively in combating skin aging processes were discussed.
This paper deals with the application of an electric vehicle (EV) motor inverter and its batteries as an energy storage device supporting the operation of home electrical installation. This additional functionality of EV is called a Vehicle-to-Home (V2H) service. Two kind of services are considered: a peak shaving and an emergency power supply. The simulation model developed in the PSCAD program is presented. It allows for the examination of the EV battery control and operation during EV driving and parking. Additionally, it allows an evaluation of the availability of home installation for the V2H service. Control algorithms enabling the implementation of discussed work options are presented. Results of simulations are presented illustrating the EV control and operation in different operational modes.
Introduction.Wiedemann-Steiner syndrome is caused by mutations in the KMT2A gene (11q23.3). It might be inherited autosomal dominant or appear de novo. Features described in the syndrome include developmental delay, short stature, hypotonia, hypertrichosis, facial dysmorphic features, and intellectual disability. Case Report. A boy aged 5.5 months was admitted to the Genetics Outpatient Clinic due to delayed psychomotor development. Microsomia, hypotonia, joint laxity, and facial dysmorphic features were noticed. No genomic imbalance was found in microarray, based on comparative genomic hybridization. The c.3528G>T variant of the KMT2A gene was identified on chromosome 11 of the missense type in next-generation sequencing. The reasons for phenotypic features were confirmed in genetic research. Conclusions. Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.
A kindergarten gives extensive opportunities for cooperation with parents. The article is limited to present two aspects of cooperation. One area concerns health education, which can and should combine and integrate the activities of kindergarten teachers and parents, concerning children’s knowledge acquisition and formation of health-oriented behaviour. The second area concerns preparing preschool children for the future role of a tourist. Advantages of tourism for a child’s development were presented, including trips as an organizational form of kindergarten work. In addition to evidence confirming the numerous cognitive, health, cultural, and aesthetic values of trips, the importance of cooperation between a kindergarten and parents in this regard was highlighted. The article also contains many proposals for methodological solutions for the discussed issues.
Duchenne muscular dystrophy is the most common inherited neuromuscular disorder. The onset of myopathic symptoms is observed at an average age of 2.5 years. However, the definitive diagnosis is not reached until between 3 and 5 years of age, indicating a delay in relation to the onset of first symptoms. The diagnosis is confirmed with genetic testing. This paper presents a case of a 6.5-month-old boy with reduced motor activity already in the foetal period, hypertransaminasaemia, constipation and reduced muscle tone. Extensive differential diagnosis of these abnormalities, including genetic testing, confirmed Duchenne muscular dystrophy. Detection of this disease at an early, poorly symptomatic stage offers a chance to achieve better treatment outcomes and improve the patient’s quality of life. Modern gene therapies implemented before irreversible changes are induced by the disease may in the future give the patient a chance to be completely cured. In the presented case, the symptoms of myopathy were present already in foetal life, and the diagnosis was reached at a younger age than the typical age reported in most of the available literature data.
The article raises the problem, increasingly discussed by pedagogues, of the functioning of a child with special educational needs in a preschool environment. The article focuses primarily on the situation of a talented, unusual child often treated as the difficult one. Many tips, methodological advices and solutions addressed to educators of unusual children were introduced, in order to provide support for teachers and parents in recognizing talents and dealing with such children.
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