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Journal Article 2017; 37(8): 551-558 PubMed PMID: 28326751 Citation  Keywords:  Adult, Aged, Arrhythmias, Cardiac:physiopathology, Body Surface Potential Mapping:methods, Depression:complications, Diabetes Mellitus:diagnosis, Electrocardiography:methods, Female, Humans, Male, Middle Aged, Predictive Value of Tests,.   

OBJECTIVES: Parameters of body surface potential mapping (BSPM) in DM II patients are significantly different comparing with healthy non-diabetic subjects. Hypothesis that these changes are more pronounced in DM II patients with depression was tested in the present study. For this purpose, analysis of the relationship between the Int-QRST (isointegral) maps distribution and the depressive symptoms intensification, as well interrelation between depressive and diabetic symptoms were performed.
MATERIAL AND METHODS: BSPM registrations were obtained from the three study groups (aged 37-52 years), namely 40 diabetic patients with clinically documented depression, 30 depressive patient without DM and 90 normal subjects. BSPM recordings were displayed in a form of the Int-QRST maps. Examination with BDI and HbA1c test were also performed in all investigated subjects.
RESULTS: Isointegral QRST maps turned out to display abnormal, i.e. non-dipolar distribution. Moreover, extent of Int-QRST maps multipolarity increased in the examined diabetic patients along with DM II duration, BDI scores and HbA1c level.
CONCLUSIONS: Non-dipolar distribution of Int-QRST maps, more pronounced in diabetic patients with depression, can be a specific indicator of the increased risk of severe ventricular arrhythmias occurring prior to abnormalities detectable on the standard 12-lead ECG recordings, which is of great importance especially in prevention of life-threatening arrhythmias....

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Comparative Study 2016; 37(1): 65-69 PubMed PMID: 26994388 Citation  Keywords:  Adolescent, Adult, Aged, Case-Control Studies, Child, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Membrane Transport Proteins:genetics, Middle Aged, Protein Tyrosine Phosphatase, Non-Receptor Type 22:genetics, Receptors, Immunologic.   

BACKGROUND: Numerous genetic studies revealed several susceptibility genes of autoimmune thyroid diseases (AITD), including CTLA4, PTPN22 and FCRL3. These immune-modulating genes are involved in genetic background of AITD among children and adult patients. However, possible age-related differences in overexpression of these genes remain unclear.

PURPOSE: The goal of this single centre cohort study was evaluation of expression levels of three (3) genes CTLA4, PTPN22 and FCRL3 in adult patients and children with autoimmune thyroiditis.

METHODS: A total of 47 patients--24 adults (mean age--47.7 years) and 23 children (mean age--12.4 years) with autoimmune thyroiditis were assessed for the level of expression of CTLA4, PTPN22 and FCRL3 genes, utilizing ABI PRISM' 7500 Sequence Detection System (Applied Biosystem, Foster City, CA, USA).

RESULTS: The overexpression of PTPN22 (mean RQ = 2.988) and FCRL3 (mean RQ = 2.544) genes were confirmed in adult patients with autoimmune thyroiditis, at the same time the expression level of CTLA4 gene was significantly decreased (mean RQ = 0.899) (p < 0.05). Similar discrepancies were not observed in children with autoimmune thyroiditis in whom overexpression of all three genes--CTLA4, PTPN22 and FCRL3--was observed. Differences in CTLA4 and FCRL3 genes expression levels in patients with autoimmune thyroiditis were found depending on the age, with increased expression levels of CTLA4 (mean RQ = 3.45 1) and FCRL3 (mean RQ = 7.410) in children when compared to adults (p < 0.05) (Mann-Whitney's U-test). There were moderate negative linear correlations between two genes in question (CTLA4 and FCRL3) expression level and patients' age [correlation coefficient (r) = -0.529 (p < 0.0002) and -0.423 (p < 0.0032), respectively; Spearman's rank correlation test].

CONCLUSION: Our results are consistent with the hypothesis that there are few age-dependent genetic differences as regards autoimmune thyroiditis in adults and children. Accordingly, CTLA4 and FCRL3 genes overexpression may play an important role in children suffering from autoimmune thyroiditis....

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Journal Article 2016; 37(1): 46-52 PubMed PMID: 26994385 Citation  Keywords:  Adult, Aged, Aged, 80 and over, Amino Acid Substitution:genetics, Case-Control Studies, Colorectal Neoplasms:epidemiology, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Glutathione S-Transferase pi:genetics, Humans, Male, Middle Age.   

OBJECTIVES: Glutathione S-transferase pi (GSTP1) is a candidate enzyme that may be involved in colorectal cancer susceptibility. Polymorphism of GSTP1 gene may cause changes in expression or structure which lead to alteration in the efficiency of catalytic function of the enzyme variants, i.e., deficient detoxification of carcinogens and consequently influences coloreActal cancer development. The present report examined the possible impact of GSTP1 (Ilel05Val) polymorphism and the risk of colorectal cancer.

METHODS: Samples of paraffin embedded tissues from 83 patients with colorectal cancer as well as thirty five non-cancerous colon tissues were collected from the archive of the pathology department at King Abdulaziz University in Saudi Arabia. All cancer and control samples were subjects to DNA extraction then amplification. DNA genetic analyzer from Applied Biosystems was used to sequence the product of amplification for genotypes determination.

RESULTS: None of the genotypes of GSTP1 was associated with the risk of colorectal cancer development. There were no statistical differences in the frequencies of GSTP1 genotypes between colorectal cancer cases and controls.

CONCLUSION: The incidence of (Val/Val) genotype in colorectal cancer cases was three folds higher than controls. This finding is not statistically significant, but it could be of clinical consequence that it may increase the risk of colorectal cancer in Saudi Arabia....

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Journal Article 2016; 37(1): 1-8 PubMed PMID: 26994378 Citation  Keywords:  Environment, Female, Genetic Predisposition to Disease, Humans, Infant, Newborn, Parturition:physiology, Pregnancy, Prevalence, Risk Factors, Schizophrenia:epidemiology, Substance-Related Disorders:complications,.   

: Schizophrenia is a severe mental disorder that affects approximately one percent of the general population. The pathogenesis of schizophrenia is influenced by many risk factors, both environmental and genetic. The environmental factors include the date of birth, place of birth and seasonal effects, infectious diseases, complications during pregnancy and delivery, substance abuse and stress. At the present time, in addition to environmental factors, genetic factors are assumed to play a role in the development of the schizophrenia. The heritability of schizo- phrenia is up to 80%. If one parent suffers from the condition, the probability that it will be passed down to the offspring is 13%. If it is present in both parents, the risk is more than 20%. The opinions are varied as to the risk factors affecting the development of schizophrenia. Knowing these factors may greatly contribute to prevention of the condition....

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Journal Article 2015; 36(5): 452-457 PubMed PMID: 26707046 Citation  Keywords:  Adolescent, Adult, Aged, Anodontia:genetics, Case-Control Studies, Child, Czech Republic, European Continental Ancestry Group, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, PAX9 Transcription Factor:genetics, Polymorphism.   

OBJECTIVES: Tooth agenesis is one of the most common developmental anomalies in humans. Genetic and environmental factors may be of etiological importance in this condition. Among genes involved in tooth morphogenesis, mutations in PAX9, MSX1, AXIN2, WNT10a, and EDA genes have been associated with tooth agenesis. The aim of our study was to investigate the relationship between the PAX9 gene variants and tooth agenesis in the Czech population.

METHODS: The selected regions of the PAX9 gene were analysed by direct sequencing and compared with the reference sequence from the GenBank online database (NCBI).

RESULTS: We found several novel variants in the PAX9 gene, e.g. insertion g.5100_5101insC (rs11373281) with simultaneous substitution g.5272C>G (rs4904155) in exon 1, and mutation g.10934C>T (Gly203Gly, rs61754301) in exon 3. In subjects with full dentition we observed polymorphisms g.10276A>G (rs12882923) and g.10289A>G (rs12883049) in IVS2 (intervening sequence 2) previously related to tooth agenesis in Polish study.

CONCLUSIONS: In our study we excluded a direct effect of rs12882923 and rs12883049 polymorphisms on the dental agenesis in the Czech population. All described PAX9 genetic variants were present both in patients with tooth agenesis and controls. We expect that tooth agenesis in our cohort of patients is caused by mutations in regions different from PAX9 exons analyzed in our study....

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Journal Article 2014; 35(6): 503-509 PubMed PMID: 25433846 Citation  Keywords:  Adolescent, Adult, Biomarkers, Cardiovascular Diseases:epidemiology, Case-Control Studies, Endothelium, Vascular:physiology, Female, Humans, Male, Middle Aged, Predictive Value of Tests, Prevalence, Psychotic Disorders:epidemiology, Risk Factors, Schizoph.   

OBJECTIVES: Our aim was to assess endothelial function in physically healthy patients with schizophrenia and related psychoses and to compare the results with healthy controls. Endothelial dysfunction was shown to predict future cardiovascular events in general population so we assumed to find a higher prevalence of endothelial dysfunction in patients with psychosis, as their cardiovascular morbidity is markedly higher than in general population, and to confirm the referred correlation with the traditional cardiovascular (CV) risk factors.

DESIGN: We assessed the traditional CV risk factors and endothelial function using non-invasive peripheral arterial tonometry (EndoPAT2000) in 50 stabilized and medicated schizophrenic patients (aged between 18 and 50 years) without any history of cardiovascular diseases and compared the results with 50 age-matched healthy controls.

SETTING: Psychiatric Clinic, University Hospital, Hradec Kralove and 2nd Department of Internal Medicine, General University Hospital, Prague, Czech Republic

RESULTS: There was no difference in relative hyperaemia index as an endothelial function measure between patients and controls (2.19±0.68 vs. 1.98±0.57, p=NS) and there were also no correlations between reactive hyperaemia index and the traditional CV risk factors, illness duration or psychotic symptoms. On the other hand, the two study groups differed significantly in almost all traditional CV risk factors....

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Journal Article 2014; 35(6): 510-517 PubMed PMID: 25433845 Citation  Keywords:  Adolescent, Adult, Antisocial Personality Disorder:diagnosis, Choice Behavior, Female, Gambling:psychology, Games, Experimental, Humans, Impulsive Behavior, Male, Models, Psychological, Predictive Value of Tests, Probability, Risk-Taking, Young Adult,.   

BACKGROUND: This study investigated the relationships between psychopathy and impulsive and risky decision making, by utilizing intertemporal and probabilistic choices for both gain and loss, in addition to the Iowa gambling task.

METHODS: The Psychopathic Personality Inventory-Revised - a 154-item measure that assesses psychopathic traits by self-report - was used with a 4-point response scale to assess 113 undergraduate students from three Japanese universities. Participants' performance on the Iowa Gambling Task and four behavioral neuroeconomic tasks of discounting - delayed gain, delayed loss, uncertain gain, and uncertain loss - were estimated.

RESULTS: Risky decisions in probability discounting of gain and loss were associated with psychopathy. Psychopathic traits had no relationship with performance on the Iowa Gambling and were not significantly related to delay discounting.

CONCLUSIONS: Psychopathy is predicted by risky decision in probability discounting of gain and loss, but not strongly associated with future myopia. Implications of the present findings for neuroeconomics and neurolaw are discussed....

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Journal Article 2014; 35(6): 531-535 PubMed PMID: 25433844 Citation  Keywords:  Aged, Atherosclerosis:metabolism, Cross-Sectional Studies, Diabetes Mellitus, Electrophoresis:methods, Female, Humans, Lipoproteins, HDL2:blood, Lipoproteins, HDL3:blood, Male, Middle Aged, Peripheral Arterial Disease:metabolism, Predictive Value of Tests.   

OBJECTIVE: To assess the relationship of high density lipoprotein subfractions to newly-diagnosed lower extremity artery disease (LEAD) in individuals without diabetes mellitus and without hypolipidemic therapy.

METHODS: This cross-sectional study involves 106 subjects: 51 had newly diagnosed LEAD and no diabetes anamnesis and were not on hypolipidemic therapy; and 55 controls were without clinical presentation of LEAD and were normolipidemic. Analysis of HDL subclasses was performed by an innovative electrophoresis method on polyacrylamide gel (PAG), the Lipoprint HDL System.

RESULTS: In LEAD subjects, total HDL-C levels as well as HDL2 (intermediate-to-large particles) subfraction levels were decreased (p<0.0001 and p<0.019 respectively). Interestingly the HDL3 (small particles) subfraction was significantly higher and lost its proportional relationship within the HDL cholesterol fraction (p<0.025, p<0.01 respectively).

CONCLUSION: These findings pointed out that: (i) the reduction of HDL-C and especially HDL2 subpopulation opposite to the increase of small HDL3 subclass may be considered as important predictors of cardiovascular diseases. (ii) there are undisputable advantages of using Lipoprint HDL to identify HDL subfractions; the presence of high concentration of small HDL in patients with PAD/LEAD emphasizes that the potentially proatherogenic subclass of HDL family is linked to small HDL....

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