Monika Mak

Genetics of Lesch's typology of alcoholism

It is widely accepted that dopamine and serotonin (5-HT) neurotransmission can be critically involved in the development of alcohol abuse and alcohol dependence. Leschs typology of alcoholism has been gaining increasing popularity as it qualitatively differentiates patients into different treatment response subgroups. The aim of the present study was to evaluate a possible genetic background of Leschs typology with special emphasis placed on dopamine- and serotonin-related genes. 122 alcoholics (the mean age: 35+/-9 years) were investigated. According to Leschs typology, 58 patients were of type I, 36 patients of type II, 11 patients of type III, and 17 patients of type IV. Alcohol drinking and family history was assessed by means of a structured interview, based on the Semi-Structured Assessment for the Genetics of Alcoholism. 150 control subjects without psychiatric disorders were also recruited. The control group was ethnically-, age- and gender-matched to the patients. The DRD2 TaqIA, exon 8, and promoter -141C ins/del polymorphisms as well as COMT Val158Met, 5HTT 44 bp del in promoter, and DAT 40 bp VNTR polymorphisms were detected by means of PCR. No significant differences were observed when the whole group of alcoholics and the controls were compared. Similarly, there were no differences between either the Lesch type I or type II alcoholics and the control subjects. No significant differences were observed between type I and type II alcoholics. Alleles frequencies were not calculated for the Lesch type III and type IV alcoholics since the number of patients was too small. The present results argue against any major role of the investigated polymorphisms in either Lesch type I or type II alcoholism. More comprehensive studies are needed to define the role of the investigated polymorphisms in Lesch type III and type IV alcoholism.

Some dopaminergic genes polymorphisms are not associated with response to antipsychotic drugs in schizophrenic patients.

BACKGROUND Therapeutic effects of all clinically used antipsychotics are related to the reduction of dopaminergic transmission in the limbic system. The aim of present study was two-fold. First, efficacy of atypical drugs (ziprasidone and olanzapine) against schizophrenia symptoms was compared to that offered by a typical antipsychotic medication, perazine. Second, associations between some dopaminergic genes polymorphisms and therapeutic response to antipsychotics were assessed in the same group of schizophrenia patients. METHODS One hundred ninety one Caucasian patients admitted with exacerbation of paranoid schizophrenia were genotyped for polymorphisms of the DRD2 [the ins/del -141C (rs1799732) and exon 8 (rs 71653615)], DRD2/ANKK1 Taq IA(rs 1800497), DAT1 (the 40 bp VNTR), COMT (rs 4680), and MAOA gene (the 30 bp VNTR in promoter). The patients were randomly assigned to the treatment with perazine, olanzapine or ziprasidone given as monotherapy for 3 months. Treatment efficacy was measured from baseline (T0) to T1 (14 days) and T2 (3 months). A retention rate was also assessed at T1 and T2. RESULTS The three antipsychotics did not differ in terms of reduction of the PANSS score or retention rate at the follow-up. There was no interaction between the investigated polymorphisms and response to the antipsychotic treatment. CONCLUSIONS The present results suggest that: i) there are no major differences in short-term efficacy or effectiveness of atypical (olanzapine, ziprasidone) and typical (perazine) antipsychotic drugs; ii) the studied polymorphisms are not primarily involved in treatment response to antipsychotics in schizophrenia patients.

Personality traits, gender roles and sexual behaviours of young adult males

BackgroundPrevious studies have shown that personality characteristics affect sexual functioning. The aim of this exploratory study was to assess and describe the relationship between global personality traits and the stereotypical femininity and masculinity levels with the broad aspects of sexual behaviours and attitudes in the group of 97 heterosexual young adult men aged 19–39 and living in Poland.MethodsThe ‘Big Five’ personality traits were measured with the NEO-FFI questionnaire; stereotypical femininity and masculinity with the Bem sex role inventory (BSRI); sexual disorders with the International index of erectile function (IIEF); socio-epidemiological data, sexual behaviours and attitudes towards sexuality with a self-constructed questionnaire.ResultsWe identified weak to moderate associations with particular sexual behaviours and attitudes. Neuroticism correlated positively with lower sexual satisfaction, self-acceptance and more negative attitudes towards sexuality; extraversion with higher desire, frequency of sexual intercourses, their diversity, sexual satisfaction, masculinity level and lower report of erectile problems; openness to experience with better quality of partnership, more positive attitudes towards sexual activity and masculinity level; conscientiousness with later sexual initiation age, more frequent and diverse sexual behaviours (but lower interest in masturbation and coitus interruptus), overall sexual satisfaction, satisfaction with one’s body and femininity level; agreeableness with a better quality of relationship with a partner, satisfaction from body, lower number of previous partners and more frequent sexual encounters (but less masturbation). Stereotypical masculinity, more so than femininity, was related to a wide range of positive aspects of sexuality.ConclusionsThe Big Five personality traits and stereotypical femininity/masculinity dimensions were found to have a noticeable, but weak to moderate influence on sexual behaviour in young adult males.

Self-disturbances, cognitive biases and insecure attachment as mechanisms of the relationship between traumatic life events and psychotic-like experiences in non-clinical adults - A path analysis

Although traumatic life events have been linked to psychotic-like experiences, the mechanisms of the relationship remain unclear. We investigated whether insecure (anxious and avoidant) attachment styles, cognitive biases and self-disturbances serve as significant mediators in the relationship between traumatic life events and psychotic-like experiences in non-clinical sample. Six-hundred and ninety healthy participants (522 females) who have not ever been diagnosed with psychiatric disorders took part in the study. Participants completed self-report scales that measure traumatic life events, psychotic-like experiences, cognitive biases, attachment styles and self-disturbances. Our model was tested with path analysis. Our integrated model fit to the data with excellent goodness-of-fit indices. The direct effect was significantly reduced after the mediators were included. Significant pathways from traumatic life events to psychotic-like experiences were found through self-disturbances and cognitive biases. Traumatic life events were associated with anxious attachment through cognitive biases. Self-disturbances, cognitive biases and anxious attachment had a direct effect on psychotic-like experiences. The results of our study tentatively suggest that traumatic life events are related with psychotic-like experiences through cognitive biases and self-disturbances. Further studies in clinical samples are required to verify our model.

Polymorphisms in immune-inflammatory response genes and the risk of deficit schizophrenia

Polymorphisms in immune-inflammatory response genes are believed to impact schizophrenia susceptibility. However, it remains unknown whether immunogenetic factors play a role in the etiology of deficit schizophrenia (D-SCZ). Therefore, we genotyped four polymorphisms in genes encoding two immune system regulatory proteins (CTLA-4 rs231775 and CD28 rs3116496), interleukin-6 (IL6 rs1800795) and transforming growth factor-β (TGFB1 rs1800470) in 513 schizophrenia patients and 374 controls. The CD28 rs3116496-CC genotype and C-allele were significantly more frequent in the whole group of patients and D-SCZ patients compared to controls. Our results indicate that the CD28 rs3116496 polymorphism might impact the risk of schizophrenia, especially D-SCZ.

Executive Function Deficits in Patients after Cerebellar Neurosurgery.

The cerebellum has long been perceived as a structure responsible for the human motor function. According to the contemporary approach, however, it plays a significant role in complex behavior regulatory processes. The aim of this study was to describe executive functions in patients after cerebellar surgery. The study involved 30 patients with cerebellar pathology. The control group comprised 30 neurologically and mentally healthy individuals, matched for sex, age, and number of years of education. Executive functions were measured by the Wisconsin Card Sorting Test (WCST), Stroop Color Word Test (SCWT), Trail Making Test (TMT), and working memory by the Digit Span. Compared to healthy controls, patients made more Errors and Perseverative errors in the WCST, gave more Perseverative responses, and had a lower Number of categories completed. The patients exhibited higher response times in all three parts of the SCWT and TMT A and B. No significant differences between the two groups were reported in their performance of the SCWT and TMT with regard to the measures of absolute or relative interference. The patients had lower score on the backward Digit Span. Patients with cerebellar pathology may exhibit some impairment within problem solving and working memory. Their worse performance on the SCWT and TMT could, in turn, stem from their poor motor-somatosensory control, and not necessarily executive deficits. Our results thus support the hypothesis of the cerebellums mediating role in the regulation of the activity of the superordinate cognitive control network in the brain. (JINS, 2016, 22, 47-57).

Neuropsychological Profile of Specific Executive Dysfunctions in Patients with Deficit and Non-deficit Schizophrenia

Objectives: Although it has been shown that there are more profound deficits present in deficit schizophrenia (DS) patients than in non-deficit schizophrenia (NDS) patients, there still remain some matters requiring further investigation. In this context, we formulated three research aims: (1) to compare executive functions between the investigated groups, (2) to determine the relationship between particular aspects of executive functions within the groups, and (3) to draw up a neuropsychological profile for executive functions. Methods: The study involved 148 schizophrenia patients divided into two groups on the basis of the Schedule for the Deficit Syndrome: DS (n = 70) and NDS (n = 78). Patients were matched for sex, age, years of education, and overall cognitive functioning. For assessing executive functions we used the Wisconsin Card Sorting Test (WCST), the Trail Making Test (TMT), the Phonemic Verbal Fluency Test (VFT P), the Stroop Color and Word Test (SCWT), and the Go/No Go task (GNG). Results: Deficit schizophrenia patients scored lower on the WCST and TMT (relative flexibility) than did the NDS patients. There were no inter-group differences in the VFT P, SCWT (relative inhibition), or GNG. There were significant correlations between WCST and TMT scores in both groups. The general neuropsychological profiles were similar in both groups. Conclusion: Deficit schizophrenia patients exhibited slightly greater interference with concept formation and non-verbal cognitive flexibility. Therefore, such problems may be specific to this particular type of schizophrenia. These results may be useful for the development of neuropsychological diagnostic methods for patients with schizophrenia.

The role of OPRM1 polymorphism in the etiology of alcoholism

BACKGROUND Numerous studies have investigated the association between the OPRM1 A118G polymorphism (rs1799971) and alcohol dependence, but the results have been inconsistent. The endogenous opioid system has been implicated in the development of alcohol dependence for its prominent role in the central rewarding mechanism. OBJECTIVES The aim of this study was to evaluate the role of the A118G polymorphism of the OPRM1 gene in the pathogenesis of alcohol dependence syndrome (ADS). MATERIAL AND METHODS The OPRM1 (rs1799971) polymorphism was investigated in an association study of a group of ADS patients (n = 177) and in subgroups (delirium tremens and/or seizures, age at onset <26 years, dissocial alcoholics, positive familial history of alcoholism, delirium tremens, and seizures). The control group consisted of healthy volunteers, with matched gender and age, and with psychiatric disorders excluded (n = 162). RESULTS Our research shows that there are differences in the genotypes and alleles of the OPRM1 polymorphism in the case-control study. Furthermore, we observed associations in our homogeneous subgroups - in the group of patients with ADS and accompanying delirium tremens and/or seizures at the genotype level, as well as in the subgroup of patients under 26 years of age with an early onset of dependence. CONCLUSIONS It is strongly possible that the G allele described in numerous studies can be associated with a response to treatment, but not typology, or the very predisposition toward alcoholism. It is necessary to carry out further research which would embrace a larger group of patients; it should be divided into other homogeneous subgroups, including, e.g., naltrexone pharmacotherapy.

Genetic and psychosocial factors for benzodiazepine addiction. An analysis based on the results of the authors’ own research conducted in a group of benzodiazepine addicted and non-addicted individuals

PURPOSE In spite of the fact that the addictive potential of benzodiazepine (BDZ) drugs has been known for a long time, benzodiazepine addiction remains a common problem for psychiatry to deal with. The etiology of benzodiazepine addiction is very complex. Among the risk factors, the course of the treatment, demographic status and psychological features of a patient seem to play an important role. The aim of this study was to investigate both psychological and genetic factors differentiating benzodiazepine addicts from non-addicted users. METHODS We analysed a cohort of 120 individuals treated with benzodiazepines divided into two groups: benzodiazepine addicts and non-addicted benzodiazepine users (the control group). In both groups we measured genetic polymorphisms of GABA A2 and MAOA. In both groups some psychometric measurements were performed - we investigated the level of depression, anxiety as a state and as a trait, personality features and the dominant coping style using the Beck Depression Scale, Hamilton Anxiety Scale, Five-Factor Personality Inventory NEO-FFI and the Coping Inventory for Stressful Situations [4,10,17,36,41,44]. RESULTS There are some psychological and situational risk factors for benzodiazepine addiction such as high neuroticism, introversion and lack of the ability to release tension through interpersonal contacts, dominance of emotional coping style and high accumulation of critical life events during both childhood and adulthood. The genetic background still remains a field for further exploration.

Analysis of the phenomenon of over-the-counter drug abuse and not controlled herbs trade by Polish adolescents: Part I

The phenomenon of stupefying by the use of available over-the-counter drugs (OTC) among adolescents is an essential problem in both Poland and throughout the world. Popular analgesics, cold medicine and antihistamines contain psychedelic substances, such as dextromethorphan (DXM), pseudoephedrine/ephedrine, codeine (methylmorphine), dimenhydrinate, paracetamol (acetaminophren) and others. Cases of fatal addiction to dextromethorphan, one of the active substances contained in medicines, e.g., the common cold, have been reported. The test results cited by the authors clearly indicate that the use of OTC drugs, whose turnover is not controlled is a domain of females. The extent of use of drugs not prescribed by a doctor has remained for many years at a constant level. The most common poisonings with OTC drugs are caused by those that affect the respiratory system or exert analgesic or antipyretic effects. They are also used in attempted suicides, especially among females. Analyzing poisonings caused by OTC medications their seasonality has been observed. Their number increases during spring-autumn. A territorial differentiation in areas of OTC drug trade in terms of their quantities, with the predominance of southern regions is also noted. Intoxication with psychoactive substances causes the deterioration of relations between young people. In the reviewed studies there is no detailed information on the composition of non-prescription medicines. Moreover, young people have easy access to mushroom fungi, growing in nearby forests and meadows that may have hallucinogenic effects and are available in pharmacies and on the Internet. Med Pr 2017;68(3):413-422.