Associations of and gene polymorphisms with alcohol dependence and commonly related psychiatric disorders: a preliminary study.

We investigated two functional polymorphisms in NLRP3 inflammasome genes ( rs35829419 and rs2043211) and their association with alcohol dependence and related anxiety, depression, obsession-compulsion, or aggression in 88 hospitalised alcohol-dependent patients, 99 abstinent alcohol-dependent participants, and 94 controls, all male Caucasian. Alcohol dependence-related psychiatric disorders were assessed with the Zung Depression and Anxiety scale, Buss-Durkee Hostility Inventory, Alcohol Use Disorders Identification Test, Brief Social Phobia Scale, Obsessive Compulsive Drinking Scale, and Yale-Brown Obsessive-Compulsive Scale. For genotyping we used the allele-specific quantitative polymerase chain reaction-based methods.

Genetic polymorphisms in dopaminergic system and treatment-resistant schizophrenia.

Background: Dopaminergic system plays an important role in antipsychotic response. Functional single nucleotide polymorphisms (SNPs) can change dopamine receptor expression or dopamine disposition and thus influence response to antipsychotic treatment.

Subjects And Methods: 138 schizophrenia patients were stratified in the treatment-resistant and treatment-responsive group.

Adenosine Hypothesis of Antipsychotic Drugs Revisited: Pharmacogenomics Variation in Nonacute Schizophrenia.

The existing antipsychotic therapy is based on dopamine hyperfunction and glutamate hypofunction hypotheses of schizophrenia. Adenosine receptors (ADORA) have a neuromodulatory role and can control dopaminergic and glutamatergic systems. To elucidate the effect of ADORA polymorphisms on psychopathological symptoms and adverse effects in patients with schizophrenia on long-term antipsychotic treatment, we examined 127 nonacute schizophrenia outpatients in a cross-sectional study using the Positive and Negative Symptoms Scale, Simpson-Angus Scale, Barnes Akathisia Rating Scale, and Abnormal Involuntary Movement Scale.

First report of an outbreak of pneumonia caused by Streptococcus pneumoniae serotype 6A.

Five patients in a geropsychiatric unit of a psychiatric hospital became abruptly ill with pneumonia caused by Streptococcus pneumoniae serotype 6A. Four other residents were colonized with the same serotype, which has previously not been reported in association with pneumonia outbreaks. Furthermore, serotype 6A is not included in all vaccine types, which may be important for the choice of vaccine in some settings.

Personalized treatment of schizophrenia in everyday clinical practice: reality or fiction?

Each day clinical practice tries to follow the idea and principles of personalized medicine. Besides predicting an individual's sensibility or predisposition for developing schizophrenia, pharmacogenetic and pharmacogenomic approaches attempt to define and acknowledge important indicators of clinical response to antipsychotics namely their efficacy and adverse effects. The main focus of our article were not facts regarding the role CYP450 liver enzymes have in this; our purpose is introducing other, new genetic and epigenetic factors which could introduce important biomarkers in diagnostics of the disease itself, the efficacy and tolerance for antipsychotics.

Influence of 5-HT1A and 5-HTTLPR genetic variants on the schizophrenia symptoms and occurrence of treatment-resistant schizophrenia.

This study aimed to explore the influence of two genetic polymorphisms of the 5-hydroxytryptamine 1A receptor (5-HT1A) and solute carrier family 6, member 4 (SLC6A4) genes on the clinical symptoms and treatment resistance in Slovenian patients with schizophrenia. A total of 138 patients with schizophrenia were evaluated using the Positive and Negative Syndrome Scale, Brief Psychiatric Rating Scale, Clinical Global Impression, and Global Assessment of Functioning. Based on the selected criteria, 94 patients were included in the treatment-responsive and 44 in the treatment-resistant group.

Genetic variability testing of neurodevelopmental genes in schizophrenic patients.

This study investigated the associations between single nucleotide polymorphisms in the neurodevelopmental Disrupted In Schizophrenia 1 (DISC1 ), neuregulin 1 (NRG1), brain-derived neurotrophic factor (BDNF) and NOTCH4 genes and the clinical symptoms and the occurrence of treatment-resistant schizophrenia in the Slovenian population. We included 138 schizophrenia patients, divided into treatment-responsive and treatment-resistant group and 94 healthy blood donors. All subjects were genotyped for eight polymorphisms (DISC1 rs6675281, DISC1 rs821616, NRG1 rs3735781, NRG1 rs3735782, NRG1 rs10503929, NRG1 rs3924999, BDNF rs6265, NOTCH rs367398) and investigated for associations with clinical variables.

Vitamin E and essential polyunsaturated fatty acids supplementation in schizophrenia patients treated with haloperidol.

Objectives: Previously, oxidative damage has been associated with severity of clinical symptoms and supplementation with antioxidants and essential polyunsaturated fatty acids (EPUFAs) was proposed to have beneficial effects in schizophrenia. We evaluated the effects of supplementation with EPUFAs and vitamin E in patients treated with haloperidol depot injection.

Design: This was a double-blind randomized placebo-controlled study with four arms (Placebo, vitamin E, EPUFAs, and vitamin E + EPUFAs).

Therapeutic drug monitoring and pharmacogenetics--is this a way towards creative psychopharmacotherapy?

Modern development trends in psychiatry incorporate greater care for patients and above all individualisation of therapeutic approaches. Therapeutic drug monitoring (TDM) for phenotyping and genotyping of drug metabolism are possible determinants of improved treatment efficacy, reduced adverse effects of psychotropic drugs, and enhanced treatment compliance. They render possible individual adjustment of psychopharmacological treatment and thus represent a small, but significant piece in the mosaic of creative psychopharmacotherapy.

Efficacy and tolerability of agomelatine in the treatment of depression.

Depression is a severe and usually recurrent mental disorder which often leads to a significant impairment of everyday functioning, a reduced quality of life, and also great suffering of the patients. The treatment of a depressive disorder is not only limited to acute treatment; it also requires prolonged management. Patient compliance is of utmost importance.

The present global financial and economic crisis poses an additional risk factor for mental health problems on the employees.

Background: The global financial and economic crisis starting in 2007 led to a deterioration of several socio-economic determinants of mental health. The aim of this cross-sectional study was to examine the impact of the present economic crisis on the depression and anxiety levels of the employed in the private and public sector in Slovenia.

Subjects And Methods: Altogether 1592 employees completed an internet based self-reported questionnaire.

Glutamatergic gene variants impact the clinical profile of efficacy and side effects of haloperidol.

Background: The glutamatergic system may be relevant to the pathophysiology of psychosis and to the effects of antipsychotic treatments.

Objectives: We investigated a set of 62 SNPs located in genes coding for subunits of glutamatergic receptors (GAD1, GRIA1, GRIA3, GRIA4, GRID2, GRIK1, GRIK2, GRIK3, GRIK4, GRIN2B, GRM1 and GRM4), and the transporter of glycine (SLC6A5), as modulators of the effects of haloperidol.

Methods And Results: We studied a sample of 101 acutely ill psychotic patients.

Efficacy and tolerability of venlafaxine extended release in patients with major depressive disorder.

Background: In this study we wanted to determine the efficacy and tolerability of venlafaxine extended release in patients with major depressive disorder.

Subjects And Methods: 161 patients with major depressive disorder were included in an open-label, multicentre clinical study. All patients were treated with venlafaxine extended release in flexible doses ranging from 75 to 325 mg daily over an 8-week period.

Personalized antipsychotic treatment: the adverse effects perspectives.

Antipsychotics are the lodestar in the treatment of schizophrenia despite the variability of the therapeutic response and drug-induced adverse effects (especially extrapyramidal symptoms, gain weight, and metabolic disturbances). More and more data are supporting the notion that genetic factors - as well as often overlooked personal and environmental factors - that define the inter-individual differences in pharmacokinetic and pharmacodynamic treatment response. At present, there are no practical pharmakogenetic tests that could be used in everyday clinical practice; however, in the field of psychiatry they are expected within a few years.

Attitudes of midwifery students towards teaching breast-self examination.

Background: The purpose of this study was to asses the attitude of undergraduate midwifery students towards teaching other women in methods of breast self-examination (BSE). PARTICIPANTS AND METHODS.: The study was performed at the beginning and at the end of students' study at the Faculty of Health Sciences in Ljubljana, Slovenia.

MDR1 gene polymorphisms and response to acute risperidone treatment.

Polymorphic multidrug resistant protein 1 (MDR1) transports drugs against a concentration gradient across the blood-brain barrier and reduces their accumulation in the brain. MDR1 may therefore influence antipsychotic brain availability contributing to inter-individual differences in treatment response and adverse effects, regardless of plasma concentrations. In the present study we investigated the influence of two common MDR1 polymorphisms on the improvement of psychopathological symptoms and occurrence of extrapyramidal side effects (EPS) in Slovenian schizophrenia patients acutely treated with risperidone.

Electroconvulsive therapy in psychiatric practice: a selective review of the evidence.

Electroconvulsive therapy (ECT) is largely historical but is still in use. Modern psychiatry requires careful selection of patients in whom ECT will be performed. The indications for ECT treatment are limited, and the selection criteria should be strictly followed.

CYP 2D6 polymorphism and antipsychotic therapy.

One of the most challenging problems in clinical psychiatry are inter-individual differences in clinical response to antipsychotic treatment. Several studies were investigating the impact of the polymorphic cytochrome P450 2D6 gene (CYP 2D6) on the psychopathological and extrapyramidal symptoms, but the results were conflicting. There is a lack of clinical studies of the impact of CYP2D6 polymorphism on therapeutic efficacy, especially in the long-term treatment of schizophrenia.

Slovenia.

Slovenia, with an area of 20 000 km and a population of 2 million, is one of the smallest members of the European Union. It gained its independence from Yugoslavia in 1991. The country has a gross domestic product (GDP) of US$27 300 per capita.

Acute antipyschotic efficacy and side effects in schizophrenia: association with serotonin transporter promoter genotypes.

Background: The serotonin transporter (5-HTT) plays an important role in serotonergic neurotransmission. In the present study, we investigated the effects of the 44 bp insertion/deletion polymorphism in the promoter region of 5-HTT gene (5-HTTLPR) on symptomatology of psychosis and clinical response to antipsychotic drugs.

Methods: In total 56 patients acutely treated with haloperidol or risperidone either for the first episode of schizophrenia, schizophreniform or schizoaffective disorders, or for the relapse of these psychotic disorders after tapering their maintenance treatment, were genotyped for the 5-HTTLPR L and S alleles and for the new A/G functional variant within the L alelle (La/g).

Polymorphisms in dopamine receptor DRD1 and DRD2 genes and psychopathological and extrapyramidal symptoms in patients on long-term antipsychotic treatment.

DRD(1) and DRD(2) receptor gene variants have been associated with clinical aspects of schizophrenia; however only specific features were analyzed in different samples. To assess the complex interaction between genetic and clinical factors, we studied the possible cross-interactions between DRD1 and DRD2 dopamine receptor gene polymorphisms, symptomatology of schizophrenia and schizoaffective disorders, and the occurrence of treatment induced side effects taking into consideration possible clinical confounding variables. One hundred thirty one outpatients in stable remission meeting the DSMIV criteria for schizophrenia spectrum disorders and receiving long-term maintenance therapy with haloperidol, fluphenazine, zuclopenthixole, or risperidone were genotyped for DRD1 A-48G, DRD2 Ins-141CDel, and DRD2 Ser311Cys polymorphisms.

Adult metachromatic leukodystrophy: a new mutation in the schizophrenia-like phenotype with early neurological signs.

Objectives: The adult type of metachromatic leukodystrophy can manifest itself as motor or as psycho-cognitive form, the latter is very similar to schizophrenia. We report on two sisters with adult metachromatic leukodystrophy who display symptoms of both forms.

Methods: Presented are genotype analyses and 4-year follow-up data regarding clinical manifestations as well as neurocognitive and neuroimaging results for two adult sisters with metachromatic leukodystrophy.

The influence of the CYP2D6 polymorphism on psychopathological and extrapyramidal symptoms in the patients on long-term antipsychotic treatment.

Poor response to antipsychotics treatment and extrapyramidal side effects (EPS) are the most challenging problems in the treatment of schizophrenia. Several studies were investigating the impact of polymorphic cytochrome P450 2D6 gene (CYP2D6) on EPS but the results were conflicting. There are practically no clinical studies of long-term treatment of schizophrenia and CYP2D6 polymorphism.