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Journal Article 2008; 29(5): 653-657 PubMed PMID: 18987576 Citation  Keywords:  Adenomatous Polyposis Coli:epidemiology, Adenomatous Polyposis Coli Protein:genetics, Chromatography, High Pressure Liquid, DNA:biosynthesis, Gene Deletion, Mutation, Polymorphism, Single-Stranded Conformational:genetics, Reverse Transcriptase Polymerase .   

OBJECTIVES: The adenomatous polyposis coli (APC) gene was analyzed for germline mutations in 113 familial adenomatous polyposis suspected families from all over Slovakia. Mutation screening was performed using single strand conformation polymorphism (SSCP) and DNA sequencing.

RESULTS: Mutations in the APC gene were found in 39 (34.5%) Slovak families and 25 different pathogenic mutations throughout the APC gene were identified. Of these, 12 mutations were deletion, one was insertion and 12 were base substitution.

CONCLUSIONS: Molecular diagnostics of Slovak FAP families revealed broad palette of mutations in crucial APC gene. The patients with identified APC gene mutations were assigned to a specific therapeutic FAP program....

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Journal Article 2008; 29(4): 399-404 PubMed PMID: 18766164 Citation  Keywords:  Animals, Decision Making:physiology, Economics, Humans, Mathematics, Models, Neurological, Physical Phenomena, Physics, Receptors, Neurotransmitter:metabolism, Risk, Risk-Taking,.   

: Decision under risk and uncertainty has been attracting attention in neuroeconomics and neuroendocrinology of decision-making. This paper demonstrated that the neurotransmitter receptor theory-based value (utility) function can account for human and animal risk-taking behavior. The theory predicts that (i) when dopaminergic neuronal response is efficiently coupled to the formation of ligand-receptor complex, subjects are risk-aversive (irrespective of their satisfaction level) and (ii) when the coupling is inefficient, subjects are risk-seeking at low satisfaction levels, consistent with risk-sensitive foraging theory in ecology. It is further suggested that some anomalies in decision under risk are due to inefficiency of the coupling between dopamine receptor activation and neuronal response. Future directions in the application of the model to studies in neuroeconomics of addiction and neuroendocrine modulation of risk-taking behavior are discussed....

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Journal Article 2008; 29(3): 366-372 PubMed PMID: 18580848 Citation  Keywords:  Acetyltransferases:metabolism, Animals, Blotting, Western, Dihydroalprenolol:pharmacology, Drugs, Chinese Herbal:pharmacology, Male, Melatonin:biosynthesis, Pineal Gland:drug effects, Plant Extracts:pharmacology, RNA, Messenger:biosynthesis, Radioimmunoas.   

OBJECTIVES: The purpose of this study is to investigate if the aqueous extract of the Chinese medicine Danggui-Shaoyao-San (DSS) can increase the plasma level of melatonin and enhance the function of the pineal gland of naturally aged rats.

METHODS: The rats were treated with DSS at doses of 3ml or same volume of distilled water by oral administration at 11 p.m. for three weeks. The plasma level of melatonin were measured by radioimmunoassay. The function of pineal gland were measured through three parameters: pineal beta adrenergic receptor binding investigated by [3H]DHA binding; pineal expression of NAT mRNA detected by real-time RT-PCR; phosphorylation of CREB (P-CREB) and total level of CREB (T-CREB) measured by western blot analysis.

RESULTS: DSS significantly increased melatonin level at night after oral administration for 3 weeks. By measurement of pineal [3H]DHA binding, it was found DSS improved the beta-adrenergic receptors binding in pineals. The stimulatory effect of DSS on the expression of NAT mRNA in the old rat pineal gland has been demonstrated in this study. Western blot analysis showed that DSS significantly increased phosphorylation of CREB.

CONCLUSIONS: Our results indicate that a downstream pathway for DSS induction of melatonin synthesis in the rat pineal gland acts via cyclic AMP-dependent cascade and transcription mechanism....

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Journal Article 2008; 29(2): 246-251 PubMed PMID: 18404133 Citation  Keywords:  Attention Deficit Disorder with Hyperactivity:genetics, Case-Control Studies, Child, DNA Mutational Analysis, Dopamine Plasma Membrane Transport Proteins:genetics, Dopamine beta-Hydroxylase:genetics, Female, Gene Frequency, Genetic Predisposition to Disea.   

BACKGROUND: Pharmacological approach is the most effective way of treatment of ADHD and its early application prevents from the progress of secondary disorders. The study on present neurotransmitter systems in pathology of ADHD can be helpful in selecting appropriate drug, since there are used various substances with different mechanisms of functioning in treatment of the hyperkinetic syndrome.

METHOD: Within our study there were selected the genes of dopaminergic (DRD2, DRD3, DAT1), noradrenergic (DBH) and serotoninergic (5-HTT) systems. With the use of molecular-genetic methods based on association strategy "case-control" there were analysed genes including 11 polymorphisms. The presence of risk alleles was examined in comparison of the sample of 100 ADHD children to a control group of another 100 subjects, who were checked by child psychiatrists and examined with the Conners test in order to exclude eventual cases with ADHD symptoms.

RESULTS: Our research suggests the association of some genes with ADHD. It could be concluded: 1) the risk of ADHD is significantly increased in the presence of one risk allele in genes DRD2 (O.R.=7,5), 5-HTT (O.R.=2,7) and DAT1 (O.R.=1,6). 2) The risk of ADHD is significantly increased at homozygotes for risk alleles in genes DRD2 (O.R.=54,8), 5-HTT (O.R.=6,7) and DAT1 (O.R.=6,6). For polymorphisms G444A and C1603T in DBH, which were detected by univariant analysis, haplotype analysis was performed and resulted in conclusion that: 3) the risk of ADHD is significantly increased in the presence of allele DBH +444A as well as in the presence of allele DBH +1603T (O.R.=15)....

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Journal Article 2008; 29(1): 17-28 PubMed PMID: 18283265 Citation  Keywords:  Antidepressive Agents:pharmacology, Biomarkers:blood, Depression:blood, Humans, Predictive Value of Tests, Signal Transduction:drug effects,.   

: The biological attributes of affective disorders and factors which are able to predict a response to treatment with antidepressants have not been identified sufficiently. A number of biochemical variables in peripheral blood constituents have been tested for this purpose, as a consequence of the lack of availability of human brain tissue. At first, the biological attributes of mental disorders were sought at the level of concentrations of neurotransmitters and their metabolites or precursors. Later on, attention shifted to receptor systems. Since the 1990s, intracellular processes influenced by an illness or its treatment with psychopharmaceuticals have been at the forefront of interest. Interest in biological predictors of treatment with antidepressants has reappeared in recent years, thanks to new laboratory techniques which make it possible to monitor cellular processes associated with the transmission of nerve signals in the brain. These processes can also be studied in plasma and blood elements, especially lymphocytes and platelets. The selection of the qualities to which attention is paid can be derived from today's most widely discussed biochemical hypotheses of affective disorders, especially the monoamine hypothesis and the molecular and cellular theory of depression. Mitochondrial enzymes can also play an important role in the pathophysiology of depression and the effects of antidepressants. In this paper, we sum up the cellular, neurochemical, neuroendocrine, genetic, and neuroimmunological qualities which can be measured in peripheral blood and which appear to be indicators of affective disorders, or parameters which make it possible to predict therapeutic responses to antidepressant administration....

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Case Reports 2008; 29(1): 44-46 PubMed PMID: 18283253 Citation  Keywords:  Adrenergic beta-Antagonists:adverse effects, Amnesia, Transient Global:diagnosis, Humans, Male, Middle Aged, Migraine Disorders:drug therapy, Recurrence, Substance Withdrawal Syndrome, Vasomotor System:physiopathology, Vasospasm, Intracranial:complication.   

: The etiology of Transient Global Amnesia (TGA) is not yet clear. A small part of TGA has a familiar occurrence. We report a case of recurrent, long-lasting familiar amnesia occurring after betablocker treatment withdrawal in a migrainous patient. We suggest that familiar TGA could be caused by the mechanism of vasospasm rather than venous congestion and that the abnormal cerebral vasomotor control could be the hereditary substrate in this condition....

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Journal Article 2008; 29(1): 29-36 PubMed PMID: 18283249 Citation  Keywords:  Hearing Loss:genetics, Humans, Membrane Transport Proteins:genetics, Mutation:genetics, Phenotype, Syndrome, Vestibular Aqueduct:abnormalities,.   

: This paper presents the current views, regarding the pathomechanisms, which lead to the development of pathological symptoms in the enlargement of the vestibular aqueduct syndrome (EVAS) and the Pendred syndrome (PS). Associated phenotypes have been discussed and an attempt has been undertaken to correlate them with a corresponding genotype. Mutations of SLC26A4 gene are one of the factors, which are at the base of congenital hearing losses. Inherited hearing loss occurs in these cases either as an isolated phenomenon with anatomical anomalies of the labyrinth in the background (EVAS) or with endocrine disorders (PS). The official name of SLC26A4 gene is "solute carrier family 26, member 4". Pendrin, the product of its expression, transports iodine beyond thyroid follicular cells, where it is linked with thyroglobulin and, then, used in hormone synthesis. Abnormal expression of SLC26A4 gene results in disturbance of iodine organification. In the internal ear, pendrin transports bicarbonates to the endolymph, taking in this way an active part in pH control of the endolymph and providing proper functioning of KCNJ10 potassium channels and TRP5 calcium channels. Disorders of homeostasis in labyrinth fluids are responsible for abnormalities of its structure, such as enlargement of the vestibular aqueduct and of the endolymph sac. At present, the Human Gene Mutations database provides 124 recessive mutations of SLC26A4 gene. In EVAS and PS, two missense mutations are most frequently observed: L236P and T416P, as well as the mutation, regarding abnormal splicing process, i.e., IVS8+1G-A, in a total of 55% of the patients with recognised mutation of SLC26A4 gene; the remaining 45% of changes of this gene are unique mutations....

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Case Reports 2008; 29(1): 69-70 PubMed PMID: 18283246 Citation  Keywords:  Adult, Depression:therapy, Female, Humans, Pregnancy, Pregnancy Complications:psychology, Transcranial Magnetic Stimulation:adverse effects, Treatment Outcome,.   

: Sir: For women diagnosed with Recurrent depressive disorder, pregnancy poses a major treatment challenge. Apart from antidepressants, the most commonly used biological therapeutical method is ECT (electroconvulsive therapy). We believe that similar efficacy can be achieved using rTMS as a safer option with substantially less side effects. So far, only a few case-reports reporting the use of rTMS for treatment of pregnant patients with depression were published....

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