Investigation of Polymorphisms in Global Genome Repair Genes in Patients With Ovarian Cancer in the Turkish Population.

INTRODUCTION: Ovarian cancer (OC) poses significant challenges due to its high mortality rate, particularly in advanced stages where symptoms may not be evident. DNA repair mechanisms, including nucleotide excision repair (NER), are crucial in maintaining genomic stability and preventing cancer. This study focuses on exploring the role of two NER-related genes, Xeroderma Pigmentosum Complementation Group C (XPC) and DNA Damage Binding Protein 2 (DDB2), in OC susceptibility. OBJECTIVES: This study aims to investigate the association between variations in two NER-related genes, XPC rs2228001 and DDB2 rs830083, among a cohort of Turkish individuals with OC and control subjects. METHODS: Genotyping of XPC rs2228001 and DDB2 rs830083 was performed on 103 OC patients and 104 control subjects from the Turkish population using the Fast Real-Time 7500 PCR platform from Applied Biosystems. RESULTS: Individuals with the homozygous AA genotype of XPC rs2228001 exhibited a reduced likelihood of developing OC (OR 0.511; 95% CI 0.261 - 1.003; P-value 0.049), whereas those with the CC variant faced an elevated risk (OR = 2.32, 95% CI = 1.75-3.08; P-value 0.035). The presence of the A allele was associated with decreased OC occurrence (P-value = 0.035). Similarly, for DDB2 rs830083, individuals with the homozygous CG genotype had a diminished risk of OC (P-value 0.036), compared to those with the GG polymorphism (OR 1.895; 95% CI 1.033 - 3.476; P-value 0.038). Furthermore, the presence of the C allele was associated with a 1.89-fold decrease in the likelihood of OC. CONCLUSION: These findings shed light on the genetic factors influencing OC susceptibility, emphasizing the importance of DNA repair systems in disease. Further research in larger and more diverse populations is warranted to validate these findings, facilitating precise risk assessment, and potentially guiding tailored treatment strategies for OC patients.

Ovarian cancer is a serious disease with a high mortality rate, especially in its advanced stages when symptoms are often not obvious. Our cells have mechanisms to repair DNA damage and maintain stability in our genetic material. Two genes involved in one of these repair mechanisms, called nucleotide excision repair (NER), are Xeroderma Pigmentosum Complementation Group C (XPC) and DNA Damage Binding Protein 2 (DDB2). This study investigates how variations in these genes may influence the risk of developing ovarian cancer. Understanding these genetic factors could lead to improved methods for diagnosing and treating this challenging disease.

Comparison of microRNA expression levels in patients with schizophrenia before and after electroconvulsive therapy.

OBJECTIVE: Exploring the role of microRNAs in the antipsychotic efficacy of electroconvulsive therapy (ECT) will contribute to understanding the underlying mechanism through which ECT exerts its therapeutic effects. The primary objective of this study was to identify microRNA alterations before and after ECT in patients with schizophrenia. METHODS: We compared microarray-based microRNA profiles in peripheral blood from eight patients with schizophrenia before and after ECT and eight healthy controls. Then, we aimed to validate selected differentially expressed microRNAs in 30 patients with schizophrenia following a course of ECT, alongside 30 healthy controls by using quantitative reverse-transcription PCR. RESULTS: Microarray-based expression profiling revealed alterations in 681 microRNAs when comparing pre- and post-ECT samples. Subsequent quantitative reverse-transcription PCR analysis of the selected microRNAs (miR-20a-5p and miR-598) did not reveal any statistical differences between pre- and post-ECT samples nor between pre-ECT samples and those of healthy controls. CONCLUSION: As neuroepigenetic studies on ECT are still in their infancy, the results reported in this study are best interpreted as exploratory outcomes. Additional studies are required to explore the potential epigenetic mechanisms underlying the therapeutic efficacy of ECT.

Association of TaqI (rs731236) Polymorphism of Vitamin D Receptor Gene with Lumbar Degenerative Disc Disease.

BACKGROUND: Lumbar degenerative disc disease (LDDD) significantly contributes to low back pain, with a complicated etiology involving genetic and environmental facts. The aim of study was to investigate the association between the TaqI (rs731236) polymorphism of the vitamin D receptor (VDR) gene with LDDD. METHODS: In total, 248 patients with symptomatic LDDD and 146 control subjects were examined. The evaluation of clinical features of patients with LDDD comprised radiodiagnostic magnetic resonance imaging, neurologic examinations, pain scores including the visual analog scale (VAS), and disability investigation with Oswestry Disability Index (ODI). Genotyping of the VDR gene polymorphism was conducted using polymerase chain reaction-based methods. RESULTS: Individuals of the LDDD group who were VDR TaqI AA genotype carriers were significantly greater than the other group (P = 0.014), whereas those with GG genotype were significantly lower (P = 0.028) in the patient group. In addition, VAS and ODI scores were significantly lower in the GG genotype carrier group, whereas AA genotype carriers had the greatest scores (P = 0.004). Carrying the G allele decreased the risk of LDDD 1.7 times (P = 0.014) and carrying the A allele enhanced the risk 1.8 times (P = 0.028). Moreover, G-allele carriers had significantly lower VAS (P = 0.002) and ODI scores (P < 0.0001). CONCLUSIONS: VDR TaqI (rs731236) GG genotype and G allele have protective potential, whereas the AA genotype and A allele are risk factors for LDDD. The findings reveal a statistically significant association of the TaqI (rs731236) polymorphism of VDR gene polymorphism with LDDD. This result highlights the potential role of genetic factors in developing LDDD and suggests avenues for future research in genetic screening and personalized treatment strategies.

Unraveling the Impact of miRNA-17 in Glial Tumors and Cerebral Metastases: A Step Towards Enhanced Diagnosis and Prognosis.

BACKGROUND/AIM: MicroRNAs (miRNAs) have been identified as key regulators in various cancer types, including brain tumors. This study aimed to investigate the differential expression of miRNA-17 in glial tumors, cerebral metastases, and normal glial tissues. MATERIALS AND METHODS: A total of 42 patients were included in this cross-sectional study. Tissue samples were obtained from patients with glial tumors or cerebral metastases and from normal glial tissues. miRNA-17 expression levels were computed by using real-time polymerase chain reaction. Receiver operating characteristics analysis was used to determine the predictive potential of miRNA-17. RESULTS: In this study, we demonstrated a statistically significant difference in miRNA-17 expression levels between glial tumors and the control group (p=0.001), with higher miRNA-17 expression observed in glial tumors. Similarly, there was statistically higher miRNA-17 expression in metastatic cases compared with the control group (p=0.007). CONCLUSION: These findings suggest miRNA-17 might be a potential biomarker for differentiating glial tumors and cerebral metastases from normal glial tissue, although further research is necessary to validate these findings and investigate the potential role of miRNA-17 in the pathogenesis of these brain tumors.

Electrocardiographic frontal QRS-T angle is independently associated with panic disorder.

OBJECTIVE: Panic disorder (PD) may cause serious cardiac arrhythmias by causing electrical abnormalities. Abnormal P-wave axis (aPwa), presence of fragmented QRS (fQRS), wide frontal QRS-T angle (fQRSTa), QRS duration corrected (QRSdc) and log/ logQRS duration/RR interval (log/logQRS/RR) have been correlated with increased risk of serious supraventricular and ventricular cardiac arrhythmias in a general population. The purpose of this study was to compare these newly explored atrial and ventricular arrhythmia indicators in patients with PD and in healthy subjects. METHOD: A total of 169 newly diagnosed PD patients and 128 healthy subjects were included in the study. The Panic and Agoraphobia Scale (PAS) was administered, and 12-lead electrocardiography (ECG) measurements were obtained. Electrocardiographic parameters including aPwa, fQRSTa, presence of fQRS, QRS duration corrected (QRSdc), and log/logQRS duration/RR distance (log/logQRS/RR) were compared between the two groups. RESULTS: aPwa and fQRS, in addition to fQRSTa, QRSdc, and log/ logQRS/RR ratio values, were significantly increased in the PD group compared to healthy controls. Correlation analyses revealed that wider fQRSTa, number of fQRS derivation, number of total fQRS, wider QRSdc, and log/logQRS/RR ratio significantly correlated with PAS score. Logistic regression analysis demonstrated that fQRSTa and the number of total fQRS were independently associated with PD. CONCLUSION: PD is associated with wider fQRSTa, QRSdc, and log/logQRS/RR in addition to the increased abnormal aPwa and presence of fQRS. These findings suggest that untreated PD patients may be susceptible to supraventricular and ventricular arrhythmia, indicating that ECG should be routinely obtained in the management of PD patients.

Mutation analysis of the TERT gene in ovarian cancer patients of the Turkish population by next generation sequencing method.

Ovarian cancer (OC) ranks seventh among malignant tumors worldwide. As one of the most common gynecological malignancies, ovarian cancer has the second-highest mortality rate, after cervical and uterine cancer. Next-Generation Sequencing (NGS) technology has enhanced multi-gene panel analysis and its clinical utility for identifying cancer-causing gene mutations. This study aimed to determine the presence of significant and nonsense mutations in telomerase reverse transcriptase (TERT), alpha-thalassemia/mental retardation, X-linked (ATRX), O-6-methylguanine-DNA methyltransferase (MGMT), and isocitrate dehydrogenase 1 and 2 (IDH1/IDH2) genes using the Next-Generation Sequencing (NGS) method. A cohort of 33 patients diagnosed with ovarian cancer was included in this investigation, and peripheral blood samples were collected from all participants. Significant and nonsense mutations in TERT, ATRX, MGMT, IDH1, and IDH2 genes were detected using the Next-Generation Sequencing method. Bioinformatics analysis was conducted using the QIAGEN Clinical Insight system. Twenty-four patients exhibited seven different TERT mutations, occurring in both exonic and intronic regions. One patient displayed a c.699-3delC deletion in the intronic region of the IDH1 gene, and the c.532G > A (p.V178I) mutation observed in three patients was assessed as potentially harmful. Additionally, novel mutations c.881A > G and c.995A > G were observed in the ATRX gene. The heterozygous novel mutation identified in the ATRX gene was confirmed through Sanger sequencing. These mutations were not previously associated with ovarian cancer and are considered novel candidate markers for ovarian cancer susceptibility. Confirmation of these results through larger cohort studies or functional investigations will contribute to a better understanding of the molecular mechanisms underlying ovarian cancer.

Expression of miRNA-451 and miRNA-885 in Meningiomas.

BACKGROUND/AIM: Meningiomas are one of the most common intracranial tumors, accounting for 30% of the tumors of the central nervous system. MicroRNAs (miRNAs) are noncoding RNAs containing approximately 18-22 nucleotides that regulate gene expression by interfering with transcription or inhibiting translation. Recent studies have reported that miRNAs could provide information about the molecular pathogenesis of several types of tumors. This study aimed to examine the expression levels of miRNA-885 and -451 and to determine their potential roles as biomarkers in meningioma. MATERIALS AND METHODS: In total, 29 patients with meningioma (9 males and 20 females) were included in this study. The expression levels of miRNA were determined using real-time polymerase chain reaction. In addition, receiver operating characteristic curve analysis was used to analyze the predictive potential of miRNAs. RESULTS: Our results indicated a significant increase in miRNA-451 expression levels (p=0.003); however, there was no significant change in miRNA-885 expression levels (p=0.139) in patients with meningioma compared with the control group. Moreover, miRNA-885 and miRNA-451 expression levels did not differ significantly based on the histopathological grade of meningioma. CONCLUSION: miRNA-451 may be a novel potential marker for the diagnosis and prognosis, and a target for meningioma treatment.

Long-term Results of Imatinib Discontinuation in Patients with Chronic-phase Chronic Myeloid Leukemia: A National Multicenter Prospective Study

Objective: The discovery of imatinib was a milestone for chronic myeloid leukemia (CML). As the life expectancy of CML patients has approached that of the general population, research has shifted towards improving quality of life and economic considerations. After 2010, it was shown that some patients could maintain molecular response even after discontinuing imatinib. This national multicenter prospective cohort study aimed to observe the long-term consequences of discontinuing imatinib therapy in adult chronic-phase CML patients. Materials and Methods: We enrolled 41 CML patients from 4 different centers in this non-randomized single-arm trial. Molecular responses of all patients were re-evaluated using real-time polymerase chain reaction at a single center. The median follow-up time after imatinib discontinuation was 48 months (minimum-maximum: 6-81 months). Results: The rate of molecular relapse-free survival at 48 months was 33.2% (confidence interval: 48.2-18.2). Twenty-seven of 41 patients lost their major molecular response, treatment was started again, and deep molecular response was re-achieved with imatinib in all cases. There was no significant relationship between molecular relapse and clinical factors such as duration of treatment or molecular response status. Discontinuing imatinib resulted in savings of approximately 4,392,000 Turkish lira or 245,150 US dollars. Conclusion: Tyrosine kinase inhibitor discontinuation with close molecular monitoring is a safe option and provides important national economic benefits for chronic phase CML patients. This approach should be considered for all eligible patients. This is the first tyrosine kinase inhibitor discontinuation study from Türkiye.

Can Pseudothrombocytopenia be recognised at first look?

Our aim was to determine the laboratory parameters that distinguish pseudothrombocytopenia from true thrombocytopenia. A total of 107 patients who were referred to the adult hematology outpatient clinic with thrombocytopenia and subsequently diagnosed with acute myeloid leukaemia, immune thrombocytopenia and pseudothrombocytopenia were included in our study. Hemogram parameters on admission, platelet value in the control hemogram and peripheral smear findings were recorded. Forty three (40.2%) males and 64 (59.8%) females, were included in our study. There were 25 patients in the leukaemia group, 39 in the immune thrombocytopenia group and 43 in the pseudothrombocytopenia group. Control platelet value and red cell distribution width/platelet ratio were found to be statistically significantly different between the 3 groups. Receiver operating characteristic analysis based on platelet values showed that platelet value ≤ 38,000/µL (86% sensitivity, 78.1% specificity, P < .001), difference between 2 consecutively measured platelet levels ≤ 11. 000/µL (79.1% sensitivity, 79.7% specificity, P < .001), red cell distribution width/platelet ratio ≥ 0.413 (90.7% sensitivity, 78.1% specificity, P < .001) were found to be in favor of true thrombocytopenia. In the differentiation of pseudothrombocytopenia and true thrombocytopenia, the difference between the hemogram parameters at the time of admission and the platelet count in the control blood count may be guiding. This result may reduce patient and physician anxiety and prevent patient referral.

[P323L Mutation in a Case with Prolonged SARS-CoV-2 PCR Positivity]. / Uzamis SARS-CoV-2 PCR Pozitifligi Olan Olguda P323L Mutasyonu.

Coronavirus disease-2019 (COVID-19) emerged in the last months of 2019 and caused a pandemic effecting the whole world. Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), the causative agent of COVID-19 has changed by various mutations since the day it was first identified, causing the pandemic to continue. Age, male gender, obesity, and comorbidity, which are general risk factors for COVID-19, can also cause prolonged PCR positivity. In this report, a case of 37-year-old male who is working in the hospital's COVID-19 molecular diagnostics laboratory was presented. He was vaccinated with three doses of inactivated vaccine, CoronaVac (Sinovac Biotech, Beijing-China), within the context of the vaccination program carried out in Türkiye. His first SARS-CoV-2 positivity was detected on 12.01.2021, four months after the last vaccination, and he continued to be detected positive for SARS-CoV-2 throughout a period of 39 days by quantitative reverse transcription polymerase chain reaction (qRT-PCR) tests performed with 2-3-day intervals. The patient has a 20-pack/year smoking history and his body mass index (BMI) was 29.8 kg/m2 at the time of his COVID-19. The case, which was clinically defined as mild COVID-19 with symptoms including back and headache, cough, fever (38.5°C), and loss of taste-smell, and without any additional complications or respiratory distress during the disease process. In the radiological examination, the lung was found within normal ranges. Prophylactic enoxaparin sodium anti-xa IU/0.6 ml was administered to the patient due to his cardiovascular risk, and no additional treatment was given. Whole genome sequencing was performed from nasopharyngeal swab samples of the patient at the beginning and 16th day of the infection to investigate the the specific genomic features and mutation pattern of the virus in the host over time, due to the prolonged SARS-CoV-2 PCR positivity. Library preparation for the whole next-generation sequencing (NGS) was performed by the SARS-CoV-2 Panel, Paragon CleanPlex kit (Paragon Genomics, USA), and indexing of the library was done by Clean-Plex Dual-Indexed PCR Primers for Illumina Set B kit (Paragon Genomics, USA). NGS analysis was performed on the Illumina Miniseq (Illumina, USA) platform. As a result of the bioinformatics evaluation, both samples were determined as SARS-CoV-2 Delta variant (Nextclade; 21J-Delta variant, Pango lineage; AY.43). Remarkably, the SARSCoV-2 sequences in the two samples taken 15 days apart; several identical mutations; such as D614G in the S gene, P323L in the ORF 1b gene region, and P1228L in the Nsp3 gene region, were detected. Besides that, when compared to the first sample, three additional mutations (P383L, P539S, L838I) were observed in the sequence of the second sample, which led to three amino acid changes, the clinical significance of which has not yet been determined in the literature. It is thought that; these mutations that change amino acid expression, as well as the other three mutations detected, may contribute to the improvement of the fitness of the virus and may be one of the factors responsible for the prolonged SARS-CoV-2 PCR positivity. Additional data to be obtained by further epidemiological sequencing studies will shed light on this issue.

Utility of Different Scoring Systems for the Diagnosis of Thrombotic Microangiopathies.

OBJECTIVE:  To investigate the appropriateness of Bentley and plasmic scores and ADAMTS-13 activity to distinguish between primary thrombotic microangiopathies (TMA) syndromes and other thrombotic microangiopathies, as well as primary thrombotic microangiopathies (TTP, complement-related TMA, etc). STUDY DESIGN:  Descriptive study. Place and Duration of the Study: Department of Hematology, Faculty of Medicine, from February 2013 to February 2020. METHODOLOGY: Data of patients with non-immune hemolytic anaemia (MAHA) and thrombocytopenia who had ADAMTS-13 test, were analysed. Clinical and laboratory findings, Bentley and plasmic scores, and ADAMTS activity levels were compared. RESULTS: The patients were grouped as primary (n = 27) and secondary (n = 28) TMA, the age was median 38.0 (18-63) years in the primary TMA group and 49.5 (20-84) years in the secondary TMA group. Neurological findings were less in the secondary TMA group (p = 0.008). Plasmic score, lactate dehydrogenase, and total and indirect bilirubin levels were high and D-dimer levels were low in the primary TMA group. In the primary TMA group, a greater number of patients with high plasmic scores were found, whereas all patients in the secondary TMA group had low risk according to Bentley score. Calcium levels were high and platelet levels were low in those with ADAMTS activity level <10% (p = 0.006). The evaluation of primary TMAs demonstrated significant differences in platelet, urea, creatinine, and sodium values between the two groups. CONCLUSION: Laboratory data and clinical scores are valuable in differentiating primary and other TMA. KEY WORDS: Bentley score, Complement, Plasmic score, Thrombotic microangiopathy, Thrombotic thrombocytopenic purpura, ADAMTS-13.

High Homocysteine Levels Are Associated with Cognitive Impairment in Patients Who Recovered from COVID-19 in the Long Term.

In this study, we measured the levels of depression and cognition in people recovering from COVID-19. Moreover, we aimed to investigate the relationship between depression and cognition levels by measuring homocysteine concentrations. It included 62 people recovering from COVID-19 (at least 3 months after positive RT-PCR) and 64 people without COVID-19 (control group). At first, the homocysteine levels of participants were measured. Beck Depression Inventory (BDI) and Montreal Cognitive Assessment (MoCA) were performed to collect data. Homocysteine levels of the group recovering from COVID-19 (x- = 19.065 µmol/L) were higher than the control group (x- = 11.313 µmol/L). There was no significant difference between the groups for BDI scores. The MoCA scores of the group recovering from COVID-19 (x- = 20.774) were lower than the control group (x- = 24.297). There was a negative high (r = -0.705, p < 0.001) correlation between homocysteine levels and MoCA scores. Linear regression analysis is shown to be significant, and the MoCA explanatory value of the variables in the model is 58.6% (p < 0.0001). A 1 µmol/L observed increase in homocysteine level constituted a risk for a 0.765-point decrease in MOCA scores. In patients recovering from COVID-19, early interventions to high homocysteine levels may prevent cognitive impairments that may persist in the long term.

A Potential Biomarker for Predicting Schizophrenia: Metallothionein-1.

It has been thought that oxidative damage may occur in the pathophysiology of schizophrenia; metallothioneins (MT) have strong antioxidant functions. In this study, we aimed to measure MT-1 levels in schizophrenia patients. A total of 52 patients diagnosed with schizophrenia and 38 healthy controls were included in the study. Serum MT-1 concentrations were measured using the Human Metallothionein-1 ELISA Kit. In addition, Cu and Zn levels were measured. PANSS (Positive and Negative Syndrome Scale) was used to determine the disease severity of patients with schizophrenia. The MT-1 levels of the schizophrenia group were lower than the MT-1 levels of the control group. When the correlation analyses were examined, a positive correlation was found between MT-1 and illness duration and Cu/Zn. A negative correlation was found between MT-1 levels and PANSS total scores and PANSS positive scores. In the regression analysis, it was seen that the decrease in MT-1 levels poses a risk for schizophrenia. It was observed that a decrease of 1 ng/mL in MT-1 levels increased the risk of schizophrenia 1.115 times. The low concentration of MT-1 is likely to cause a deficiency in antioxidant defense in patients with schizophrenia. MT-1 may be a useful biomarker for predicting schizophrenia.

Monocyte/HDL Cholesterol Ratios as a New Inflammatory Marker in Patients with Schizophrenia.

PURPOSE: Monocyte/HDL cholesterol ratio (MHR) is a novel inflammatory marker that is used as a prognostic factor for cardiovascular diseases and has been studied in many diseases. The aim of this study was to investigate the role of inflammatory factors in schizophrenia patients by examining MHR levels and to compare schizophrenia patients and healthy controls in terms of cardiovascular disease risk. METHOD: A total of 135 participants between the ages of 18-65, 85 diagnosed with schizophrenia, and 50 healthy individuals in the control group were included in this cross-sectional study. Venous blood samples were taken from the participants and CBC parameters and lipid profiles were analyzed. The sociodemographic and clinical data form and positive and negative symptoms scale (PANSS) were administered to all participants. RESULTS: Although monocyte levels were significantly higher in the patient group, HDL-C levels were lower at significant levels. MHR was found to be higher in the patient group compared to the control group at significant levels. When compared to the control group, total cholesterol, triglyceride, WBC, neutrophil, basophil, and platelet levels were higher in the patient group at significant levels, and RBC, hemoglobin, and hematocrit levels were significantly lower. CONCLUSION: The elevated MHR in patients with schizophrenia may contribute to our understanding that inflammation plays important roles in the pathophysiology of schizophrenia. Additionally, knowing the levels of MHR and considering the recommendations, such as diet and exercise, in the treatment approaches made us think that it might be beneficial in protecting schizophrenia patients against cardiovascular diseases and early death.

Melatonin levels are low in COVID-19 positive patients and these levels are associated with depression, death anxiety and insomnia.

In this study, we aimed to measure the melatonin levels in COVID-19 positive patients and to investigate the relationship of these levels with depression, death anxiety and insomnia. COVID-19 positive pneumonia group, COVID-19 negative pneumonia group and healthy control groups were included in the study. Melatonin ELISA kit was used. Blood samples were taken at 23:00 h (h), 02:00 h and 06:00 h. Beck Depression Inventory (BDI), Templer Death Anxiety Scale (TDAS), Insomnia Severity Index (ISI) were employed to collect data from the participants. The melatonin levels of COVID-19 positive patients at 23:00 h were lower than the control group. In addition, and the melatonin levels of COVID-19 positive patients at 02:00 h and at 06:00 h were lower than both the COVID-19 negative patient group and the control group. It was observed that the peak melatonin concentration of COVID-19 positive patients occurred at 06:00 h. BDI, TDAS and ISI scores of COVID-19 positive patients were higher than other groups. There was a negative correlation between BDI, TDAS, ISI scores of COVID-19 positive patients and their melatonin levels. The correlation between all scale scores and melatonin levels was higher at 02:00 h. Adding melatonin to the treatment of COVID-19 positive patients may be beneficial for these patients experiencing high levels of depression, anxiety and insomnia.

Major depressive disorder is an independent predictor of the electrocardiographic frontal QRS-T angle.

OBJECTIVES: The relationship between ventricular arrhythmias and major depressive disorder (MDD) has been previously revealed. Recently, frontal QRS-T angle (fQRSTa) and Tp-Te/QT ratio proved to provide more accurate predictive data about ventricular arrhythmias than the measurement of QT, QTc, and QT dispersion. The aim of this study was to determine the effects of MDD on contemporary ventricular arrhythmia indicators. PATIENTS AND METHODS: 57 newly diagnosed MDD patients and 65 healthy subjects were included in the study. Hamilton depression rating scale (HAM-D) and Hamilton Anxiety Rating Scale (HAM-A) were administered and ECG measurements were obtained. Ventricular arrhythmia predisposition was assessed by calculating the Tp-Te/QT ratio in addition to fQRSTa. RESULTS: fQRSTa and Tp-Te/QT ratio values in the MDD group were significantly higher than the control group. Correlation analyses revealed that Tp-Te/QT ratio and fQRSTa significantly correlated with (HAM-D). It was found with linear regression analysis, MDD existence and its severities were independent predictors of fQRSTa and Tp-Te/QT ratio. CONCLUSION: MDD predisposes to ventricular arrhythmia by causing increased fQRSTa and Tp-Te/QT ratio on ECG. Increased fQRSTa and Tp-Te/QT ratio may be useful indicators of dysregulation in the autonomic nervous system and increased risk of ventricular arrhythmias in MDD patients (Tab. 6, Fig. 4, Ref. 38). Text in PDF www.elis.sk Keywords: major depressive disorder, Hamilton depression rating scale, frontal QRS-T angle, Tp-Te/QT ratio.

Low α-N-acetylgalactosaminidase plasma concentration correlates with the presence and severity of the bipolar affective disorder.

OBJECTIVES: Believing that a neurodevelopmental pathology may cause bipolar affective disorder (BAD), we aimed to measure the concentrations of α-N-acetylgalactosaminidase (α-NAGAL), a lysosomal enzyme. METHODS: The study included 32 patients with BAD and 32 healthy controls. The Young Mania Rating Scale was used to measure the severity of the disease. Serum α-N-acetylgalactosaminidase concentrations were measured in all blood samples using the human α-N-acetylgalactosaminidase ELISA Kit. RESULTS: A statistically significant difference was found in the α-NAGAL values between the groups. The mean α-NAGAL values of BAD patients are lower than the mean α-NAGAL values of the control group. A strong negative and statistically significant relationship was found between the α-NAGAL values of patients with BAD and their Young Mania Rating Scale scores. And a positive strong correlation was found between the age of onset of the disease and α-NAGAL levels. CONCLUSIONS: Low α-N-acetylgalactosaminidase concentrations may cause the accumulation of some glycoproteins in the lysosomes in the brain during the gestational period, producing the clinical symptoms of BAD. α-N-acetylgalactosaminidase deficiency may not be the only cause of BAD, but it may be an important factor in the aetiology of this disease.

Could low α-N-acetylgalactosaminidase plasma concentration cause schizophrenia?

OBJECTIVES: Using a neurodevelopmental approach to examine the aetiology, we predicted an enzyme deficiency to exist at the cellular level and aimed to measure α-N-acetylgalactosaminidase (α-NAGAL) blood levels. METHODS: The study included 32 patients diagnosed with schizophrenia and 30 healthy controls. The positive and negative syndrome scale (PANSS) was applied to the patients with schizophrenia. Serum α-NAGAL concentrations were measured in blood samples taken from all participants using the human alpha-N-acetylgalactosaminidase ELISA Kit. RESULTS: The mean α-NAGAL values of schizophrenic patients are lower than the mean α-NAGAL values of the control group (p = 0.000 < 0.001). Correlation analysis showed that there was a significant relationship between α-NAGAL values and PANSS scores of patients with schizophrenia. PANSS total (r = -0.708, p = 0.000 < 0.001), PANSS positive (r = -0.627, p = 0.000 < 0.001), PANSS negative (r = -0.386, p = 0.029 < 0.05). And a positive moderate correlation was found between the age of onset of the disease and α-NAGAL levels (r = 0.529, p = 0.002 < 0.05). CONCLUSIONS: Based on the neurodevelopmental hypothesis, the low α-NAGAL concentrations this study found might cause accumulation of glycoproteins in the lysosomes in the central nervous system during the gestational period and then might result in the clinical symptoms of schizophrenia. α-NAGAL may be an important factor in the aetiology of schizophrenia.

Stigmas and childhood traumas associated with psychological help-seeking in suicide attempted individuals.

PURPOSE: The aim was to investigate the possible associations of suicide attempt with childhood trauma, social support, psychological support seeking, stigmatizations. The study was case-control study and included 100 participants (50 suicide, 50 controls). CONCLUSION: BDI, BAI scores were higher in the patient (p < 0.001). While scores of all-subscales of Childhood-Trauma-Questionnaire were higher (p < 0.05) in the patients, scores of Perceived-Social-Support were lower (p < 0.001). Repeating suicide attempts has higher Stigma-Scale-for-Receiving-Psychological-Help scores than the patients who attempted to the first time (p = 0.045). PRACTICE IMPLICATION: Suicide is relationship with more childhood traumas, less social support. Repeating suicide attempts, individuals felt public stigma for receiving psychological help.

Serum miRNA-582-5p and miRNA-363 as Potential Non-Invasive Biomarkers for Glioblastoma Multiforme.

AIM: To determine expression levels of miRNA-582-5p and miRNA-363 in serum of patients with Glioblastoma Multiforme and assess their biomarker potential. MATERIAL AND METHODS: The study population consisted of 71 subjects including 35 patients and 36 healthy controls. Realtime polymerase chain reaction was used to determine serum expression levels of miRNA-582-5p and miRNA-363 in patients and control individuals. Receiver operating characteristic (ROC) curve analysis was performed to assess the diagnostic potential of miRNA-582-5p and miRNA-363. Serum caspase-9 level was measured using enzyme-linked immunosorbent assay. RESULTS: Normalized expression levels of miRNA-582-5p and miRNA-363 were calculated using the 2-ΔΔCt method. We found that miRNA-582-5p and miRNA-363 were significantly upregulated in patients compared with healthy controls. High levels of miRNA- 582-5p (Fold change 2.86, p < 0.0001) and miRNA-363 (Fold change 3.51, p < 0.0001) were significantly associated with Glioblastoma Multiforme. Additionally, ROC analyses demonstrated that levels of miRNA-582-5p [area under the curve (AUC)=0.938, p=0.0001] and miRNA-363 [AUC=0.951, p=0.0001] were significantly different between the groups. In contrast, there was no correlation between levels of serum caspase-9 and those of miRNA-582-5p (p=0.144) or miRNA-363 (p=0.050). CONCLUSION: High serum levels of miRNA-582-5p and miRNA-363 are associated with Glioblastoma Multiforme, and are potential biomarkers.