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1
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Regulation of the genes involved in neurotransmission in Attention Deficit/Hyperactivity Disorder

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Cuch B., Polaczek A., Idziak M., Kotuła L., Maciejewski R., Madej-Czerwonka B., Kocki J.
Current Issues in Pharmacy and Medical Sciences
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2015
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vol. 28
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issue 2
115-119
EN
Attention Deficit Hyperactivity Disorder is the full name of the disease commonly deemed ADHD. This disease is most frequently diagnosed in childhood, and it affects up to 12 % of all children world-wide. The current clinical criteria (the base for diagnosis) can be found in DSM -V. The core symptoms are divided in three groups: hyperactivity, impulsivity and impaired attention. The aetiology of the disorder is combined, including a wide range of factors, and the genetic, environmental, toxic, perinatal background is taken into account. Because, currently, more and more studies are seeking to explore the heritability of the disorder, the aim of this study is to review the information provided by different research centres which discuss the genetic background of the disease. Herein, we present the results of different studies gathered from the online database. Our findings indicate that the participation of genetic factors within this disorder is supported by family, twin and adoption studies. Indeed, in current literature, researchers estimate that there is a higher risk of developing ADHD among children from families with an ADHD history. Of particular note is that there are some studies indicating particular genes that determine the susceptibility to ADHD. Such studies make mention that most of these genes encode components of the dompaminergic and serotoninergic neurotransmission systems. Researchers in the field, thus, are attempting to link the presence of certain alleles in affected children with their response to treatment. Yet, while ADHD is now considered as being a disorder of genetic background, we cannot indicate a single gene or its mutation that would be crucial in the aetiology and diagnosis. Still, a number of candidate genes have been reported so far.
2
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Cide-AGene Expression in Patients with Obesity Qualified for Endovascular Treatment of Abdominal Aorta Aneurysm

84%
Feldo M., Kocki J., Feldo J., Łukasik S., Bogucki J., Skwarzyński A., Wroński J., Kęsik J., Zubilewicz T.
Polish Journal of Surgery
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2015
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vol. 86
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issue 10
473-478
EN
CIDE-A gene and the genes of LRP group play a key role in the regulation of the body weight and lipid metabolism in mammals. CIDE-A is defined as a potential human obesity gene and the LRP1 gene is associated with the development of abdominal aortic aneurysm (AAA). The aim of the study was to define the role of CIDE-A gene in patients with dyslipidemia and asymptomatic AAA. Material and methods. The study group consisted of 38 subjects, including 27 men and 11 women qualified for endovascular aneurysm repair (EVAR). The subjects with abdominal aortic aneurysm were enrolled in the study group, depending on the body mass index (BMI); in obese patients (BMI > 30). The control group (n = 16) included subjects without lipid disorders. One-step isolation of RNA from lymphocytes and adipose tissue cells was performed using the modified TRI method by Chomc-zynski and Sacchi, and then the gene expression was tested by real-time PCR. Results. The highest mean relative of the gene expression for CIDE-A was reported in subjects with the normal body weight. The lowest mean relative of the gene expression for CIDE-A was observed in the group of obese patients with aortic aneurysm and lipid disorders. A high negative correlation (r = -0.7101) in the gene expression for CIDE-A was observed in the group of obese patients with aortic aneurysm, depending on the BMI. Conclusions. Due to the important role of the CIDE-A gene and Cide-A protein in the development of metabolic syndrome, obesity and the accompanying vascular lesions such as abdominal aortic an-eurysm, seen in this context, the tested gene and protein Cide-A represent a potential therapeutic target in these diseases.
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CIDE-A gene expression in patients with abdominal obesity and LDL hyperlipoproteinemia qualified for surgical revascularization in chronic limb ischemia

84%
Feldo M., Kocki J., Łukasik S., Bogucki J., Feldo J., Terlecki P., Kęsik J., Wroński J., Zubilewicz T.
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vol. 85
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issue 11
644-648
EN
According to the latest data, CIDE -A gene plays a key role in the regulation of body weight in both humans and mice, and therefore it is regarded a potential candidate gene for human obesity. The aim of the study was to define the role of CIDEA gene in patients with dyslipidemia and symptomatic limb ischemia. Material and methods. The study group contained 28 patients, including 17 men and 11 women. Patients were enrolled in the study group, depending on the value of body mass index (BMI); there was BMI>30 for obese patients. The group included untreated patients (n=14) and patients (n=14) receiving atorvastatin 20 mg/day for at least three months prior to the initiation of the study. The control group (n=16) contained patients with no lipid disorders. A one-step isolation of RNA from lymphocytes and adipose tissue cells was carried out using the TRI method modified by Chomczyński and Sacchi. Next, gene expression was tested using real-time PCR. Results. The highest mean relative expression of CIDE -A gene occurred in patients with normal body weight. The lowest mean relative expression of CIDE-A gene was observed in obese patients with lipid disorders. A high negative correlation (r=-0.7919) of CIDE -A gene expression, depending on BMI, was reported in the group of obese patients with lipid disorders. Conclusions. Due to an important role of Cide-A protein demonstrated in the development of metabolic diseases such as obesity, metabolic syndrome, type 2 diabetes and their vascular complications, CIDE -A gene and protein are potential therapeutic targets in the case of these diseases.
4
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The expression BIRC6 gene in patients with chronic lymphocytic leukemia – a preliminary study

68%
Chomik P., Gil-Kulik P., Filas M., Wojcieszek A., Wilinski M., Karwat J., Kotula L., Niedojadlo A., Czop M., Bogucka-Kocka A., Cioch M., Pluta R., Kocki J.
Current Issues in Pharmacy and Medical Sciences
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2014
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vol. 27
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issue 3
179-182
EN
The BIRC6 gene encodes the Bruce (Apollon) protein. This belongs to the III class of Inhibitors of the Apoptosis Protein (IAP) and demonstrates anti-apoptotic activity (binding, inhibiting and degrading the caspases). Moreover, the Bruce protein shows multilevel activities and additional functions. The Bruce protein is involved in the maintenance of cell viability, and it is also suggested that it plays an important role in cell proliferation and diversification. Many researchers have noticed elevated BIRC6 gene expression in cell lines of brain cancer and ovarian carcinoma, leukemia, breast cancer and even in colorectal cancer tissues. Resistance to chemotherapy-inducted apoptosis in cancers characterized by BIRC6 gene over-expression was also reported. The aim of the study was to assess the BIRC6 gene expression in peripheral blood lymphocytes of patients diagnosed with chronic lymphocytic leukemia.
5
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The gene expression of class III inhibitors of apoptosis in arteriosclerotic disease

68%
Gil-Kulik P., Niedojadło A., Feldo M., Karwat J., Kotuła L., Chomik P., Dudek I., Filas M., Wojcieszek A., Zubilewicz T., Bogucka-Kocka A., Kocki J.
Polish Journal of Public Health
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2015
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vol. 124
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issue 1
38-41
EN
Introduction. Recent research shows that programmed cell death has great importance in the pathomechanism of atherosclerosis. The BIRC5 and BIRC6 genes belong to Class III IAPs with the anti-apoptotic effect. The proteins display multidirectional action. According to the available literature, in addition to the effect of apoptosis inhibition they also display other properties. It is suggested that they play an important role in the processes of proliferation and cellular differentiation. Aim. The aim of the study was to assess the expression of the BIRC5 and BIRC6 genes in normal peripheral blood lymphocytes and in peripheral blood lymphocytes of patients diagnosed with atherosclerosis. Material and methods. The analysis was carried out on RNA samples obtained from peripheral blood lymphocytes of 21 patients with diagnosed atherosclerosis. The specific fragment of the analysed gene was obtained through amplification with the use of cDNA synthesised in the reaction of reverse transcription. The test of expression was conducted with the use of the Real-Time PCR method. In the studied cases, the level of expression of the analysed gene was compared to the level of expression of the reference gene, B2M. Results. The study showed that mRNA of the BIRC5 and BIRC6 genes is present in the cells of patients with atherosclerosis, as well as in the cells of healthy individuals. The cells taken from the patients with atherosclerosis were mainly characterized by an increased gene expression in comparison to the normal cells. Conclusion. Increased BIRC6 and BIRC5 gene expression in the cells of the patients with atherosclerosis can suggest an increased amount of the inhibitor protein BRUCE and survivin, and also decreased sensitivity of cells to apoptosis. In the case of the patients who had significantly higher expression of the BIRC6 gene in lymphocytes compared to the norm, hypertension and diabetes mellitus were more common
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