Polymorphic Variants of TNFR2 Gene in Schizophrenia and Its Interaction with -308G/A TNF-α Gene Polymorphism.

AIM: Many data showed a role of inflammation and dysfunction of immune system as important factors in the risk of schizophrenia. The TNFR2 receptor is a molecule that adapts to both areas. Tumor necrosis factor receptor 2 (TNFR2) is a receptor for the TNF-α cytokine which is a strong candidate gene for schizophrenia. The serum level of TNFR2 was significantly increased in schizophrenia and associated with more severe symptoms of schizophrenia. METHODS: We examined the association of the three single nucleotide polymorphisms (rs3397, rs1061622, and rs1061624) in TNFR2 gene with a predisposition to and psychopathology of paranoid schizophrenia in Caucasian population. The psychopathology was measured by a five-factor model of the PANSS scale. We also assessed a haplotype analysis with the -308G/A of TNF-α gene. RESULTS: Our case-control study (401 patients and 657 controls) revealed that the genetic variants of rs3397, rs1061622, and rs1061624 in the TNFR2 gene are associated with a higher risk of developing schizophrenia and more severe course in men. However, the genotypes with polymorphic allele for rs3397 SNP are protective for women. The rs1061624 SNP might modulate the appearance of the disease in relatives of people with schizophrenia. The CTGG haplotype build with tested SNPs of TNFR2 and SNP -308G/A of TNF-α has an association with a risk of schizophrenia in Caucasian population depending on sex. Our finding is especially true for the paranoid subtypes of schizophrenia.

Psychological gender of patients with polycystic ovary syndrome.

OBJECTIVE: We compared women with polycystic ovary syndrome (PCOS) to a control group with regard to intensity of hirsutism and psychological gender. DESIGN: Cohort study, 2005-2009. SETTING: Gynecological endocrinology clinic and gynecological practice, Silesian area, Poland. SAMPLE: 89 women aged 17-42 years with PCOS, in two groups (S1, S2) by age < or ≥31 years, and age-stratified controls of 45 healthy women. METHODS: We used the General Health Questionnaire (GHQ 12), Ferriman-Gallwey score and Psychological Gender Inventory, to assess masculinity and femininity through self-reported possession of socially desirable, stereotypical personality traits (masculine, feminine, androgynous, undifferentiated), supplemented by questions concerning social status (education, profession) and gynecological history. All questionnaires were anonymous and independently answered during clinic visits. MAIN OUTCOME MEASURES: Influence of PCOS and concomitant hirsutism on psychological gender. RESULTS: Hirsutism (moderate or severe intensity) was observed in a considerably higher number of women from both PCOS groups compared with controls (S1: 49.0 vs. 20.0%, p < 0.05, S2: 41.9 vs. 16.7%, p < 0.05, respectively). Women ≥31 years with PCOS more often viewed themselves as sexually undifferentiated compared with controls (31.8 vs. 6.7%, p < 0.01), less likely to identify with a female gender scheme (18.2 vs. 33.3%), and more likely to see themselves as androgynous (50.0 vs. 40.9%). CONCLUSIONS: Women with PCOS have, depending on age and severity of disease, problems with psychological gender identification. Duration and severity of PCOS can negatively affect the self-image of patients, lead to a disturbed identification with the female-gender scheme and, associated with it, social roles.

Dyadic relationships of people with schizophrenia. / Zwiazki diadyczne osób chorujacych na schizofrenie.

Creating successful partnerships is important for the overall quality of life. People suffering from schizophrenia experience significant difficulties in entering and maintaining dyadic relationships due to psychotic symptoms, consequences of the disease and its treatment or social stigmatization. Difficulties in creating intimate relationships are noticed already during adolescence, constituting one of the elements of prepsychotic changes. Among people diagnosed with schizophrenia, women more often than men create dyadic relationships, which may be due to the later onset of the disease, better indicators of social functioning, and favorable socio-cultural patterns. Among coupled individuals, the quality of their relationships is important for the course of the disease and treatment. People with schizophrenia often prefer to bond with other patients because of the possibility of creating a balanced relationship providing acceptance and support. Healthy partners of people with schizophrenia, due to the burden arising from the specificity of the disease and commitment to care for a sick partner, also need professional support. Issues regarding dyadic relationships should be included in a holistic therapeutic approach to people diagnosed with schizophrenia.

Characteristics of attachment styles in adults diagnosed with psychotic disorders - a research review. / Charakterystyka stylów przywiazania u doroslych osób z rozpoznaniem zaburzen psychotycznych ­ przeglad badan.

Attachment theory offers a coherent conceptualisation of emotional bond formation, social functioning and affect regulation, which can be helpful in explaining the onset and course of mental disorders, as well as optimising the healing process. Despite the growing interest in the importance of attachment in psychopathology, this issue has not been explored in the population of patients suffering from psychotic disorders (PD) in Poland. The aim of this study is a comprehensive approach to attachment in adults in the context of PD, i.e. to integrate existing reports on the specificity of attachment in adults with PD and the role of attachment in the aetiology of PD, its course, patients' functioning, and the healing process. Attachment can provide an important theoretical perspective, offering opportunities to understand PD and to plan clinical strategies tailored to the individual needs of patients. Among people with psychotic disorders, insecure attachment patterns are more common, which corresponds to reports of increased prevalence of traumatising childhood experiences in this group. Insecure attachment can negatively affect the psychosocial functioning of people diagnosed with psychotic disorders in interpersonal relations, metacognitive skills and affect regulation. Relationships between insecure attachment and the severity and specificity of productive symptoms, especially hallucinations and delusions have been demonstrated. Patient attachment patterns can affect the interpersonal component of psychosis treatment, including relationships with psychiatric staff and therapeutic alliance. Considering this perspective by adjusting interactions to patient attachment patterns, as well as increasing safety in the therapeutic relationship can translate into improved patient treatment.

An Analysis of Five TrkB Gene Polymorphisms in Schizophrenia and the Interaction of Its Haplotype with rs6265 BDNF Gene Polymorphism.

AIM: The BDNF dysfunction in the schizophrenia has been soundly documented. The TrkB gene is a high-affinity receptor of the BDNF that is changed in schizophrenia and mood disorders. The study had two aims: first, to identify whether the five nucleotide polymorphisms (SNPs) in TrkB gene are associated with a diagnosis of schizophrenia; and the latter, if any association exists between the TrkB SNPs and psychopathology, suicide attempts, and family history of schizophrenia in a Caucasian population. METHODS: Case-control study (401 patients and 657 healthy controls) was used to examine a predisposition for schizophrenia. The tests for psychopathology, suicide attempts, and family history of schizophrenia were conducted only in patient group. The severity of the schizophrenia was measured using the five-factor model of the PANSS. In addition, the haplotype analysis for both the separate for SNPs of TrkB gene and in combination with the rs6265 SNP BDNF gene was conducted. RESULTS: Our case-control study revealed that the genetic variants of rs10868235 (T/T polymorphic genotype) and rs1387923 (G/G polymorphic genotype) of the TrkB gene were associated with a higher risk of developing schizophrenia in men. However, the A/A wild genotype of rs1387923 was connected with a lower risk for both the development of and the family manifestation of schizophrenia in men. The G polymorphic allele of rs1565445 was associated with an increased risk of suicide in schizophrenia. The tested SNPs of the TrkB gene did not modulate the psychopathology of schizophrenia. The haplotype that was built with five SNPs in the TrkB gene was protective for men, but after joining the rs6265 SNP of the BDNF gene, a haplotype that was protective for women was created.

Association of HSPA1B Polymorphisms with Paranoid Schizophrenia in a Polish Population.

This study aimed to find the potential association between HSPA1B polymorphisms and risk of paranoid schizophrenia, clinical variables of the disease, and suicidal behavior. A total of 901 unrelated Polish subjects of Caucasian origin (377 schizophrenia patients and 524 controls) were recruited. Four single-nucleotide polymorphisms (SNP) were genotyped using PCR-RFLP (rs539689, rs9281590) and TaqMan assays (rs263979, rs6547452). A strong tendency towards statistical significance (p = 0.051) was observed in rs539689 allele distribution between patients and controls in overall study subjects. After stratification according to gender, we found that rs539689 was significantly associated with schizophrenia in males, but not in females. The minor allele C had a protective effect in males [OR 0.73 (95% CI 0.61-0.88, p < 0.05)]. In addition, two SNPs (rs539689, rs9281590) were significantly associated with PANSS scores. Another important finding was a strong significant association between the HSPA1B rs539689 polymorphism and attempted suicide in schizophrenic patients. The C/C genotype and C allele were protective against suicidal behavior in entire sample (p < 0.001), in males (p < 001), and in females (p < 0.05), although associations were weaker than in males. Our findings support that HSPA1B gene may be involved in susceptibility to schizophrenia and clinical presentation of the disease in a sex-dependent manner, and may play a role in suicidal behavior in the Polish population of schizophrenic patients. Further independent analyses in different populations should be performed to clarify the role of HSPA1B in the pathogenesis of schizophrenia.

Vagus Nerve Stimulation For Treatment Resistant Depression: Case Series Of Six Patients - Retrospective Efficacy And Safety Observation After One Year Follow Up.

OBJECTIVE: One year observation and evaluation of the VNS (vagus nerve stimulation) efficacy and safety for patients with treatment resistant depression in Polish conditions. METHODS: An open label, uncontrolled and one center retrospective study of VNS therapy was implemented with stable pharmacotherapy in 6 patients with treatment resistant depression (TRD). For the first 3 months, only VNS parameters were altered but the pharmacological treatment was unchanged and in the following 9 months, medication and VNS dosing parameters were altered according to the clinical state of the patients. RESULTS: The baseline 24-item Hamilton Depression Rating Scale (HAMD-24) score averaged 24. Both response (>50% reduction in baseline scores) and remission rates after 3 months of treatment were only 40%. After 1 year of VNS therapy, the response rates increased to 86%. Most frequent side-effects were voice alteration (86% at 3 months of stimulation) and headaches (40%). CONCLUSION: VNS treatment was safe and effective in TRD patients and its efficacy increased with time. Efficacy ratings are similar to the previously reported studies using a congenial protocol.

Association study of the excitatory amino acid transporter 2 (EAAT2) and glycine transporter 1 (GlyT1) gene polymorphism with schizophrenia in a Polish population.

Background: Excitatory amino acid transporter 2 encoded by SLC1A2 is responsible for approximately 90% of glutamate uptake. Glycine transporter 1, encoded by SLC6A9, is responsible for maintaining a low concentration of the N-methyl-D-aspartate receptor (NMDAR) co-agonist - glycine in the synaptic cleft, suggesting its participation in the development of the NMDARs hypofunction described in schizophrenia. Aim: The aim of this study was to evaluate whether the functional polymorphism-181 A/C (rs4354668) of the SLC1A2 and the rs2486001 (IVS3+411 G/A) in the SLC6A9 are involved in schizophrenia development and its clinical picture in the Polish population. Methods: The study group consisted of 393 unrelated Caucasian patients (157 [39.9%] females and 236 [60.1%] males; mean age 41±12) diagnosed with schizophrenia according to the DSM-5, and 462 healthy controls. The results of the Positive and Negative Syndrome Scale (PANSS) were presented in the five-dimensional model. Polymorphisms of SLC1A2 and SLC6A9 were genotyped with the use of PCR-RFLP assay. Results: There were no statistically significant differences in the frequency of genotypes and alleles between the patients and controls for SLC1A2 and SLC6A9 polymorphisms in either the entire sample or after stratification according to gender. In the haplotype analysis, men with CA haplotype had more than 1.5 higher risk to develop schizophrenia than women (OR=1.63 [95% CI=1.17-2.27, p<0.05]). The influence of gender, genotypes of both analyzed polymorphisms and gender x genotype interactions on individual dimensions of the PANSS scale has not been observed. Also, there was no association of either polymorphism with suicide attempts. Conclusion: The results of the present study did not indicate an association of polymorphism-181 A/C (rs4354668) in SLC1A2 and rs2486001 in SLC6A9 with onset of schizophrenia and its psychopathology in a Polish population.

Electroconvulsive therapy in 77-year-old patient with pacemaker: a case report.

The treatment of a 77-year-old patient suffering from severe psychotic depression with a cardiac pacemaker is described. Because of treatment-resistant depression, electroconvulsive therapy (ECT) was introduced. In the course of ECT, there was a great improvement in his mental state without any cardiac complications. This case may be evidence for the safety and effectiveness of ECT in the elderly, even with cardiac comorbidities. Some recommendations for ECT in patients with pacemakers are discussed.

Association Studies of HSPA1A and HSPA1L Gene Polymorphisms With Schizophrenia.

BACKGROUND: Schizophrenia is a severe psychiatric disorder with a strong genetic component. The HSP70 chaperones are particularly interesting in terms of schizophrenia, especially with regard to neurodevelopmental hypothesis, because they are critical regulators in normal neural physiological function as well as in cell stress responses. AIM OF THE STUDY: The present study aimed to determine whether genetic variants in the HSPA1A (rs1008438, rs562047) and HSPA1L (rs2075800) genes are associated with the risk of paranoid schizophrenia and the clinical presentation of the disease. METHODS: A total of 1080 unrelated Polish subjects of Caucasian origin (401 schizophrenia cases and 679 healthy controls) were recruited. Three single nucleotide polymorphisms (SNP) were genotyped using PCR-RFLP (rs562047) or TaqMan (rs1008438, rs2075800) assays. All analyses were conducted for the full sample and within subgroups stratified by gender. RESULTS: There were no statistically significant differences in genotype or allele distributions of all polymorphisms tested between the schizophrenia and control groups. We also failed to find any schizophrenia predisposing haplotype in the whole group. A sex-stratified analysis revealed haplotypic association with paranoid schizophrenia in men, albeit the risk effect was contributed only by a rare haplotypes. More importantly, rs562047 variant was significantly associated with PANSS total and PANSS negative scores in schizophrenia. CONCLUSIONS: Our results support previously reported associations between HSPA1A and HSPA1B SNPs and schizophrenia symptomatology. Further population-based prospective studies with larger sample sizes from different ethnic groups should be performed to clarify the role of different HSP70 genes in the pathogenesis of schizophrenia.

Promoter Polymorphisms of TNF-α Gene as a Risk Factor for Schizophrenia.

BACKGROUND/AIMS: The latest data showed a link between mental disorders and altered immune function. Schizophrenia is a multifactorial disease with numerous changes in the immunological system. The TNF-α gene is a strong candidate for schizophrenia susceptibility. The focus of this paper were the -1031 T/C, -863 C/A, -857 C/T, -308 G/A single nucleotide polymorphisms (SNPs) of the TNF-α gene. METHODS: We conducted a case-control study of 401 patients with schizophrenia and 606 healthy subjects. The connections between tested SNPs and clinical variables (PANSS, age of onset, a family history, and suicide attempts) were also examined. RESULTS: The presence of genotypes: the C/C at -1031 T/C; the C/C at -863 C/A; the G/G at -308 G/A in the TNF-α gene was associated with a higher risk of schizophrenia in men. The presence of A allele at -308 G/A increased a risk of schizophrenia in women. Three haplotypes were associated with a higher risk of schizophrenia in men but not women. We did not reveal any associated tested SNPs with intensity of schizophrenia symptoms. CONCLUSION: Our results indicate that in addition to -308 G/A, other promoter polymorphisms of TNF-α gene are associated with schizophrenia susceptibility depending on the sex. Tested SNPs are not associated with the psychopathology of schizophrenia.

Combined use of ECT and psychotropic drugs.

Electroconvulsive therapy (ECT),despite a significant psychopharmacological development and introduction of modern drugs in recent years, is still an important, biological treatment of proven, high clinical efficacy. In the management algorithms it is still considered as a method of choice in treatment of drug-resistant patients. No wider use of ECTmay in part result from fears of potential interactions with pharmacotherapy, or need to interrupt the current treatment. The issue of potential impact of pharmacotherapy on many procedure parameters, including mostly seizure threshold and therefore indirectly clinical effect, is still up-to-date. Systematic studies have revised the existing theories about restrictions in the administration of medications during ECT treatment. Nowadays more often not only the safety of such procedure, but also possibility of synergistic therapeutic effect of ECT and psychopharmacology is highlighted. The authors present previous reports on combined use of pharmacotherapy and ECT, safety or potential risks associated with this treatment and proposals of scientific bodies in this regard. Interpretative limitations of conducted research, including especially case reports or observations of small groups, which requires further studies involving more numerous patient populations is noteworthy.

The use of ketamine in electroconvulsive therapy.

In recent years, data on the possibility of rapid clinical improvement after administration of ketamine in patients diagnosed with depression have been published more frequently. Ketamine, used as an anaesthetic during ECT procedures, despite earlier concerns, has both: a good safety profile and minimal effect on seizure threshold, which is used in cases of non-response to ECT. Postulated action of ketamine causes a rapid resolution of depressive symptoms raised hopes to accelerate therapeutic effect of ECT in patients with severe depression, but studies provide contradictory data pointing to brevity of the observed effect. Studies examining the use of ketamine combined with other anaesthetic drugs emphasized not only its antidepressant effect, but also improvement in hemodynamic parameters during ECT treatment. The aim of this work on one hand is to make psychiatrists aware that the role of anaesthesiologist at ECT is not limited to anaesthetise a patient and provide muscle relaxation, and, on the other hand, to make anaesthesiologists aware that drugs they use have a significant effect on seizure parameters and indirectly on the effectiveness of ECT. Due to small size of studied populations the issue of antidepressant efficacy of ketamine requires further exploration.