Noropsikiyatri Arsivi-Archives of Neuropsychiatry最新文献

Introduction: This study aimed to investigate the relationship between symptom dimensions within obsessive-compulsive disorder and thought-action fusion, magical thinking, and schizotypal personality traits.

Methods: This research was designed as a cross-sectional case-control study. The study population involved patients with obsessive-compulsive disorder, and healthy controls who did not exhibit any psychiatric disorders following the Structured Clinical Interview for DSM-IV (SCID-I). Thought-Action Fusion Scale (TAFS), Magical Ideation Scale (MIS), Vancouver Obsessional-Compulsive Inventory (VOCI), Schizotypal Personality Questionnaire (SPQ), Beck Anxiety Inventory (BAI), Beck Depression Inventory (BDI) were administered to all participants. The two groups were compared in terms of sociodemographic variables and scale scores, Spearman's correlation analysis was performed to examine the relationship between TAFS total and all subscale scores, magical thinking, schizotypal personality traits and OCD symptom dimensions scores.

Results: The study comprised 37 patients with OCD and 36 healthy controls. The patient group exhibited significantly higher scores in TAF total and all subscales, MIS, SCQ, BDI, and BAI, compared to the healthy control group. Positive correlations between magical ideation scores and VOCI-obsessions and VOCI-hoarding subscale scores and between schizotypal personality scores and VOCI-obsessions, VOCI-hoarding, VOCI-just right, VOCI indecisiveness scores was found.

Conclusions: The relationship between symptom dimensions in obsessive-compulsive disorder such as sexual, religious, aggression, hoarding, symmetry/ordering and magical thinking and schizotypal personality traits shows that these variables are among the determining factors for OCD symptoms. .

Introduction: Parkinson's Disease (PD) is a neurodegenerative disorder distinguished from other neurodegenerative disorders by the loss of dopaminergic neurons in the substantia nigra region of the brain, and is the most common neurodegenerative disorder, along with Alzheimer's Disease. PD is characterized by the presence of Lewy bodies when evaluated pathologically. Recent studies showed that the incidence of PH development as a result of genetic mutations alone is very low among all PD cases, and that environmental effects contribute significantly to the disease progression. The molecular mechanisms of diseases are associated with the maintenance of gene and protein expressions as a result of epigenetic regulations. The role of these regulations in the development and pathogenesis of neurodegenerative diseases is still not clearly understood.

Methods: In our study, we examined the expression levels of H3C1, H3C12, HDAC4, HDAC5, ANKRD11, ANKRD12, ITM2B and GABBR1, which are genes involved in epigenetic processes in patients with idiopathic PD. Seventy five patients diagnosed with idiopathic PD and 50 healthy controls were included in the study. Peripheral Blood Mononuclear Cell (PBMC) was obtained from whole blood taken from the patient and control groups, and then total RNA was isolated from PBMC.

Results: According to the comparison of the patient and control groups, the expression of H3C1, H3C12, ITM2B was high, and the expression of ANKRD11, HDAC4, HDAC5 and GABBR1 was low (p<0.05).

Conclusion: As conclusion, we propose that histone regulation is one of the epigenetic mechanisms related to the presence of PD.

Introduction: Patients with schizophrenia have a higher lifetime prevalence of suicidal behavior (SB) compared to the general population. Therefore, understanding the possible neurobiology of suicide and predicting the risk of suicide in schizophrenia is a solemnly critical issue.

Methods: 31 drug-naïve first episode schizophrenia (FES) patients with current SB (FES-S), 69 drug-naive patients with first episode schizophrenia without SB (FES-NS), and 69 drug-naïve non-psychotic patients with current SB (NPS) who were diagnosed according to The Diagnostic and Statistical Manual of Mental Disorders - 5 (DSM-5) participated the study. The control group (HC) consisted of 127 individuals matched with the patients. Symptoms at the time of evaluation were assessed using The Positive and Negative Syndrome Scale (PANSS) and Columbia Suicide Severity Rating Scale (CSSRS). Blood samples were collected from all participants to determine White blood cell (WBC), neutrophil, monocyte, albumin, C-reactive protein (CRP), Lymphocyte, and Platelet levels and to measure this protein ratio.

Results: The blood levels of WBC, neutrophil, monocyte, albumin, CRP, and Neutrophil/Albumin Ratio (NAR) were higher in all patient groups compared to HC. CRP/Albumin Ratio (CAR) value was observed to be highest in the NPS group. Monocyte/Lymphocyte Ratio (MLR) value was significantly higher in patients with FES compared to HC. There were no significant differences between the FES-S group and the FES-NS and NPS groups.

Conclusion: It can be suggested that although inflammation is not a predictor for suicide attempts in schizophrenia, it is associated with the degree of suicide risk in schizophrenia. In addition, the strong relationship between suicide and psychiatric disorders can be the main reason for high peripheral inflammation levels in suicidal patients.

Introduction: In this study, we aimed to investigate the clinical effects of COVID-19 infection and vaccines on Myasthenia gravis (MG) during the pandemic.

Methods: A total of 141 MG patients between April 2020 and December 2021 were retrospectively analyzed. Data including demographic and clinical characteristics of patients, COVID-19 test results, and vaccine types (mRNA-BNT162b2 and/or inactivated-CoronaVac) were recorded. All patients were followed by face-to-face interviews and/or phone calls. Worsening MG symptoms after COVID-19 infection or vaccines were noted.

Results: A total of 60 patients were diagnosed with COVID-19, and reverse transcriptase-polymerase chain reaction test results were COVID-19 positive in 54 (90%) patients. Twenty-eight (46.7%) patients had lung involvement, while 20(33.3%) patients were followed in the ward. Twelve (20%) patients were followed in the intensive care unit, and two of them (3.3%) died. Both deceased patients were unvaccinated. The most common symptoms were fatigue (78.3%), and 13(21.7%) patients were asymptomatic. Of the patients, 96(68%) received at least one dose BNT162b2 or CoronaVac, while 30.4% of the patients received ≥3 doses of vaccines. The local skin irritation and fatigue rate was significantly higher with BNT162b2 vaccine than CoronaVac (p<0.001 and p=0.004, respectively). No serious side effect was observed with either vaccine. Five patients had worsening MG symptoms after vaccination during a six-week follow-up. None of the patients experienced myasthenic crises.

Conclusion: Our study results suggest that COVID-19 infection affects MG similar to the general population and does not lead to worsening MG symptoms. Both mRNA and inactivated vaccines with proven efficacy can be used safely in MG patients.

Introduction: It has been suggested that inhibin B (InhB), Anti-Müllerian hormone (Müllerian-inhibiting substance, AMH) levels, and 2D/4D finger length ratios are related to sex differences in neurodevelopmental disorders. The aim of this study is to investigate the role of InhB, AMH levels, and 2D/4D finger length ratios in male children with specific learning disorder (SLD).

Methods: The study included 38 male children diagnosed with SLD and 38 males of similar ages without SLD as the control group. Tests used in the evaluation were the Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime version, Specific learning disorder clinical observation battery, Wechsler Intelligence Scale for Children-Revised (WISC-R), and Conners' Parent Rating Scale.

Revised: Short Form. Serum AMH, InhB, and Testosterone levels were measured using an enzyme-linked immunosorbent assay.

Results: Male children diagnosed with SLD demonstrated significantly higher levels of serum InhB compared to controls (t= 2.59 p=0.009); both groups had similar levels of serum testosterone and AMH. The 2D/4D finger ratios in the SLD group were found to be lower than those in the control group (t= 2.92 p= 0.005). Serum InhB levels were positively correlated with WISC-R verbal scores (p= 0.003).

Conclusion: Our findings suggest that serum InhB levels and the 2D/4D ratio, which is an indicator of prenatal testosterone exposure, may play a role in the male predominance of SLD.

Introduction: Genetic factors play an important role in the etiopathogenesis of autism spectrum disorder (ASD). The Pogo Transposable Element with ZNF Domain protein (POGZ) gene (MIM*614787) has been reported to be one of the most frequently mutated genes associated with ASD. This study aims to analyze the exonic regions of the POGZ gene in individuals diagnosed with non-syndromic ASD.

Methods: Fifty-one non-syndromic cases diagnosed with ASD according to the DSM-V diagnostic criteria, aged 2-18 years, were included in the study. The healthy control group consisted of 50 children of similar age groups without neurodevelopmental problems. Amplicons produced using deep intronic primers covering the mRNA-encoded regions of the POGZ gene from at least 50 base pairs were sequenced by Next Generation Sequencing Analysis.

Results: No pathogenic or likely pathogenic variants reported in open-access databases (ClinVar, HGMD, etc.) were detected in the case group. In the ASD and healthy control groups, rs113396244, rs11204811, rs779479223, rs772352054, rs3831142, rs112072925, rs227453 and rs142860188 variants were determined. The rs3831142, rs112072925, rs2274535, rs142860188 variants were found statistically significant in the ASD group. The distribution of the cases with detected single nucleotide polymorphisms (SNPs) according to gender was not statistically significant.

Conclusion: The variants identified as statistically significant within the patient group are situated in regions that encompass both the HP1-ZNF and DDE domains of the protein. Given the crucial role that the DDE domain plays, particularly in fetal brain development and neurogenesis, these four variants may potentially possess modifying and/or predisposing effects in the context of ASD.

Introduction: Misophonia, not yet classified within diagnostic manuals, triggers strong emotional, physiological, and behavioural reactions to specific sounds. This study examines its correlations with attention deficient/hyperactivity disorder (ADHD) traits, obsessive-compulsive traits, and autism-related traits in adolescent outpatients with non-psychotic disorders. We hypothesize a positive association between misophonic symptoms and these psychological traits.

Methods: This study was conducted at a Turkish psychiatric centre from January to July 2023 in adolescents aged 12-18. Parents completed the Autism Spectrum Quotient-Adolescent (AQ-Adolescent), and Conner's ADHD Parent Rating Scale-48 (CPRS-48), while the adolescent filled out the Misophonic Symptom Checklist (MCL) and Maudsley Obsessive-Compulsive Inventory (MOCI). Using non-parametric statistical tests, the research found associations between the scales, with a total sample size of 348.

Results: Females had higher scores on MCL. There is a negative correlation between AQ-Adolescent and MCL, positive correlations between MCL-MOCI and MCL-CPRS-48. In gender specific correlation analysis found that AQ-Adolescent and MCL were negatively correlated, MCL and MOCI were positively correlated in males. MCL, CPRS-48 and MOCI were positively correlated in females. In regression AQ-Adolescent, MOCI and CPRS-48 significantly predicted the levels of MCL.

Conclusions: Our study unveils a link between ADHD, obsessive-compulsive symptoms, autistic traits, and misophonic symptoms in adolescent psychiatric outpatients, highlighting sex differences.

Introduction: Epilepsy is a network disorder that can cause alterations in retinal morphology due to microstructural changes in the brain. The aim of our study was to use spectral optical coherence tomography (OCT) to assess the possible effects of neuronal degeneration on the intraretinal layers and macular structures of people with epilepsy and epilepsy subgroups.

Methods: We enrolled 52 consecutive people with epilepsy (37 females, 15 males; mean age 29.8±9.9 years; range, 17-48 years) and 40 healthy volunteers (27 females, 13 males; mean age 33.3±10.2 years; range, 19-49 years) in this study. Both eyes of all participants were assessed by using spectral-domain OCT. Optical coherence tomography was used to assess the thickness of the peripapillary retinal nerve fiber layer (RNFL), ganglion cell layer-inner plexiform layer (GCC-IPL), central macula, and central macular volume.

Results: In comparison to healthy controls, people with epilepsy showed a thinner GCC-IPL in the superior and superior-nasal quadrants, as well as reduced macular thickness and macular volume (p<0.05). The thickness of the GCC-IPL layer in the superior and inferior subquadrants was negatively affected by frequent seizures (>5 seizures/year), polytherapy, and long-duration of epilepsy (≥10 years) (p<0.05). However, we did not find any other statistically significant associations between OCT measurements, age, sex, and epilepsy type (focal and generalized onset epilepsy).

Conclusion: Individuals with epilepsy exhibited microstructural alterations in the retinal layers, primarily in the superior and inferior quadrants. Frequent seizures, polytherapy, and long-duration of epilepsy may result in neuronal damage in the afferent visual system.

Introduction: Acute ischemic stroke (AIS) is a devastating complication of COVID-19 with high morbidity and mortality. In this study, we reported the frequency, characteristics, and outcome of AIS in patients with COVID-19.

Methods: This multicenter and cross-sectional study was conducted between April 2020 and February 2021. Among the hospitalized patients with COVID-19, the detailed characteristics of those with and without AIS were recorded and compared.

Results: Six hundred ninety-three patients were included in the study. Acute ischemic stroke was detected in 16 (2.31%) patients, the median age was 77 (range, 48-91) years, and 10 (62.5%) were female. The median NIHSS score at admission was 9 (range, 3-17). Total anterior circulation infarction (TACI) was the most common (37.5%) type and cardioembolism was the most common etiology (37.5%). Nine patients (56.25%) developed AIS within 24 hours of having COVID-19. COVID-19 severity was severe or critical in seven patients (43.75%). Eight patients died, and eight were discharged. Patients with AIS had a higher rate of hypertension, coronary artery disease, heart failure, a history of myocardial infarction, a history of cerebrovascular disease, severe and critical COVID-19, a higher mean age, and a longer ICU stay compared with those without AIS (p<0.001 for each).

Conclusions: AIS can occur in patients with COVID-19 and is associated with mortality. Acute ischemic stroke is encountered at any stage of COVID-19, especially within the first 72 hours of the diagnosis, in older patients with comorbidities and severe COVID-19. There is an increased risk of AIS in patients with COVID-19 with a history of stroke.

Imagawa-Matsumoto syndrome (IMMAS; MIM #618786) is an autosomal dominant syndrome characterized by overgrowth, dysmorphic features, musculoskeletal abnormalities, developmental delay, and intellectual disability. The first case was reported in 2017 and has subsequently been diagnosed in only another 12 patients. We also present the first IMMAS patient from Turkey. A 19-year-old female was admitted to the neurology outpatient clinic due to a behavioral disorder and intellectual disability. Her physical examination revealed macrocephaly and dysmorphic features like a round face, broad forehead, hypertelorism, and variable skeletal anomalies such as flat feet, clinodactyly, and macrocephaly. Cranial magnetic resonance imaging (MRI) showed agenesis of the corpus callosum and polymicrogyria. Chromosomal analysis results were consistent with a normal constitutional female karyotype and microarray analysis showed a de novo 1.5-MB size deletion on the long arm of chromosome 17; band q11.2 encompassing the Polycomb Repressive Complex 2 Subunit (SUZ12 gene, MIM *606245). This report will contribute to the limited information in the literature.