Introduction: The lack of clarity regarding the upper age limit for defining ischemic stroke in young individuals, and the absence of a gender-based distinction, make it difficult to determine the true incidence of stroke in young people and to standardize the approach to elucidating its etiology. This study aimed to examine the risk factors and etiology of ischemic stroke in young individuals, as well as to evaluate their distribution by gender. Methods: This retrospective, observational, single-center study evaluated stroke risk factors and etiologies in 200 patients aged 18-55 diagnosed with ischemic stroke, and their distribution among male and female patients. Results: The mean age was higher in males, who accounted for 58.5% of the patients. Smoking, alcohol use, and coronary artery disease (CAD) were more common in men, while anemia, migraine, and oral contraceptive use were more common in women. The most common etiological subgroup was stroke of other determined etiology (SODE) which was more common in women. Small vessel occlusion (SVO) was more common in men. In women, the mean ages ofetiological subgroups were similar, but in men, the large artery atherosclerosis (LAA) group had a significantly higher mean age than the stroke of undetermined etiology and SODE groups. Conclusion: Risk factors and etiology showed significant differences by gender. The proportion of etiological subgroups is consistent with earlier studies where the upper age limit was lower, suggesting that 55 years of age may be an appropriate upper age limit for young stroke. However, the finding that SVO and CAD, in which classical vascular risk factors play a major role, were more frequent in men, and that the mean age of men with LAA was older than that of men in other subgroups, indicates that the upper age limit for young stroke should most likely be lower in men.
Introduction:Given the global gene expression alterations associated with amyloid beta (Aβ), a hallmark of Alzheimer's disease (AD) pathology, this study aimed to investigate its potential role in modulating gene expression through the regulation of specific transcription factors (TFs). Methods:Using a combination of protein-protein interaction prediction tools and transcriptional regulatory interaction databases, we identified JUN, FOS, ATF2, ATF4, RELA, NF-κB, SMAD3, STAT1, STAT3, and SP1 as potential candidate TFs that might be involved in Aβ1-42 related pathways. We then conducted in vitro studies to demonstrate a direct effect of Aβ on these TFs and a case-control study to investigate any alterations of selected TFs in human samples. In vitro studies included HEK293 T cells treated with 0.09 µM and 10 µM Aβ1-42. The expression levels of the TFs were assessed by qRT-PCR. The mRNA expression levels of selected target transcription factors that have the highest PPI scores, namely JUN, FOS, and RELA, were also investigated in blood samples from core Alzheimer's disease (AD) cerebrospinal fluid (CSF) biomarker-confirmed AD cases and plasma ALZpath pTau217-confirmed healthy subjects. Results:In vitro studies indicated that the mRNA expression of most of the TFs was altered due to either the dose of Aβ or the period of treatments. JUN, FOS, NFKB, and SP1 mRNA expression were increased, while STAT1 and ATF2 were decreased within 24 hours of at least one dose of Aβ treatment. At 48 hours of treatment, FOS, STAT1, STAT3, ATF2, and SP1 were higher, whereas RELA, SMAD3, and NFKB were lower in Aβ-treated groups. At 72h of treatments, the ATF4 and NFKB expressions were high, whereas JUN FOS, RELA, STAT1, STAT3, ATF2, and SP1 were low in Aβ treated groups. Human samples showed that the mRNA levels of JUN and RELA were significantly higher in blood samples from AD cases compared to those from healthy individuals. Conclusion:Alterations in the expression levels of TFs in response to Aβ exposure may explain the alterations of the expression levels of genes that these TFs regulate. Given that, understanding the transcriptional effects of Aβ and its regulatory role on TFs may provide a perspective for the physiological roles of Aβ and the molecular pathways underlying AD pathogenesis.
Introduction:Early diagnosis and treatment are essential for the effective treatment of ischemic stroke. The objective of this study was to assess the effect of stroke knowledge among patients and caregivers on hospital arrival, clinical outcomes, and healthcare costs. Methods:This is a cross-sectional study of 219 patients with ischemic stroke and their family members. Awareness of stroke was measured using a structured questionnaire, and the participants were divided into two groups: those with a high level of awareness of stroke and those with a low level of awareness of stroke. The primary outcome measures were time to hospital arrival, modified Rankin Scale (mRS) scores at 1 and 3 months, and the total treatment cost within 3 months. Results:Patients in the high-awareness group presented to the hospital much earlier (58±21.8 min vs. 185±40.3 min, p=0.001), displayed better functional outcome at 1 month (mRS: 1.64 vs. 2.19, p=0.01) and at 3 months (mRS: 1.52 vs. 1.95, p=0.01) and lower treatment costs ($998 vs. $1679, p=0.001). Interestingly, calling the emergency service as a first response was associated with significantly lower costs. On the other hand, low awareness was associated with delayed intervention, worse clinical outcomes, and greater economic strain. Conclusion:A better understanding of the signs of a stroke by patients and their caregivers leads to faster treatment, improved recovery, and lower costs. Stroke awareness can be enhanced through public health efforts, potentially leading to a significant reduction in the clinical and economic burden of stroke.
Introduction:The present study aimed to examine the psychometric properties of the Brief Pittsburgh Sleep Quality Index (B-PSQI) in a Turkish adult population. Methods:The sample included 296 adults: 163 healthcare professionals at Silifke State Hospital (Sample 1) and 133 individuals applying for a health committee report (Sample 2). Results:Confirmatory factor analyses confirmed the unidimensional structure of the B-PSQI in both samples. The B-PSQI scores were highly correlated with the PSQI scores in both samples, with r values of 0.905 and 0.925. The B-PSQI scores also demonstrated strong correlations with the Insomnia Severity Index scores in Sample 1 (r=0.774) and Sample 2 (r=0.762). Furthermore, B-PSQI scores were positively correlated with depressive and anxiety symptoms. The reliability of the scale was acceptable, with Cronbach's alpha and McDonald's omega values exceeding 0.70. A score of ≥4 on the B-PSQI provided the optimal balance between sensitivity (85.0% and 95.9%) and specificity (89.3% and 85.7%) for detecting individuals with poor sleep quality. Conclusion:The current findings suggest that the B-PSQI is a valid and reliable instrument for assessing sleep quality among Turkish adults. Further research in diverse populations is warranted to corroborate these findings.
Introduction: Major depressive disorder (MDD) is marked by increased negative emotions and decreased positive emotions, indicating impaired emotion regulation. This study aimed to examine emotional responses to positive and negative visual stimuli in drug-free female patients with MDD compared to healthy controls and to explore the connection between these responses and emotion regulation strategies. Methods: Forty-six drug-free female patients diagnosed with MDD and 40 age and educational level-matched healthy women were included. All participants underwent structured psychiatric interviews (SCID) and completed the Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), and Emotion Regulation Questionnaire (ERQ). Emotional responses to six basic emotions (sadness, disgust, anger, fear, happiness, surprise) were assessed during two block-design slide sessions using images from the International Affective Picture System (IAPS). Emotional response intensity was analyzed with repeated measures ANOVA, controlling for baseline emotion scores, menstrual cycle phase, and stimulus order. Results: Across the experiment, patients reported significantly higher overall levels of sadness (F=56.7, p<0.001), disgust (F=22.3, p<0.001), anger (F=31.4, p<0.001), fear (F=48.7, p<0.001), and surprise (F=6.7, p=0.01), and lower overall levels of happiness (F=47.4, p<0.001) compared with controls across the experiment. When baseline levels were covaried, patients exhibited heightened reactivity to negative stimuli, specifically in disgust (F=11.7, p=0.001), anger (F=4.3, p=0.04), and fear (F=14.6, p<0.001), while responses to sadness and surprise did not differ. Furthermore, when baseline emotional states were controlled, emotional reactivity to positive stimuli, including happiness, did not differ between groups. Conclusion: Contrary to a generalized emotion context insensitivity hypothesis, our findings demonstrate emotion-specific dysregulation in MDD. Drug-free female patients showed heightened reactivity to negative stimuli in terms of disgust, anger, and fear, but not sadness or surprise. Importantly, emotional responses to positive stimuli, including happiness, were comparable between patients and healthy controls. These results underscore the importance of evaluating basic emotions separately in depression research and highlight the potential value of targeting emotion-specific processes in treatment approaches.
Introduction: Bipolar I disorder (BD-I) frequently co-occurs with eating disorders, particularly binge eating disorder (BED), which may adversely affect the clinical course, including recurrence risk and functional impairment. Research exploring the specific association between BED and childhood trauma (CT) in BD-I remains limited. This study aimed to investigate the prevalence of BED among euthymic BD-I patients and to examine its associations with CT and clinical characteristics. Methods: This cross-sectional study recruited 150 euthymic BD-I patients diagnosed according to DSM-5 criteria. Sociodemographic data, illness-related variables, psychiatric comorbidities, and medication use were collected. Binge eating disorder was assessed through the Structured Clinical Interview for DSM-5 (SCID-5) and validated eating disorder scales. Childhood trauma was evaluated using the Childhood Trauma Questionnaire (CTQ). Statistical analyses included group comparisons and multivariate logistic regression. Results: Binge eating disorder prevalence in the sample was 19.3%. Female sex, higher body weight, and elevated body mass index were significantly associated with BED. Compared to patients without BED, those with BED reported higher rates of psychotic episodes, rapid cycling, and suicide attempts. Childhood trauma questionnaire total scores, particularly physical abuse subscale scores, were significantly higher in the BED group. Logistic regression analysis revealed that female sex, a history of physical abuse, and higher eating disorder scale scores were independent predictors of BED. Conclusions: Our findings indicate that BED constitutes a distinct and clinically consequential profile in euthymic BD-I patients, one that is stronglyshaped by both increased illness severity and CT. This relationship underlines the necessity of integrating systematic assessments of eating pathology and trauma exposure into the standard clinical evaluation of BD-I patients to ensure timely recognition and the delivery of effective, precision-based therapeutic interventions.
Introduction: This study aimed to investigate the modulation of simple sensory stimuli on brain intrinsic connectivity networks in the Alzheimer's disease continuum (ADC) using functional magnetic resonance imaging (fMRI). Methods: fMRI and neuropsychological assessment data of 88 cases in ADC were analysed. fMRI data were recorded in a session including blocks of light stimuli flickering at 20 Hz frequency and in the resting state from 21 Alzheimer's disease dementia (ADD), 34 mild cognitive impairment (MCI) and 33 subjective cognitive impairment (SCI). CONN (functional connectivity toolbox) software was used for functional connectivity analyses of fMRI data. Bonferroni correction was applied according to the number of ROIs in functional connectivity analyses and the significance threshold was determined as pFWE <0.0033. Results: As a result of the analysis of the resting state data, decreased connectivity was detected between the posterior cingulate cortex seed of the default mode network and the temporal and parietal areas in ADD compared to the SCI and MCI groups. Decreased functional connectivity was detected between the anterior insula and anterior cingulate cortex seeds of the salience network and the temporal, frontal and cingulate cortices in ADD compared to the SCI and MCI groups. However, in the data of flickering light stimulation at a frequency of 20 Hz, increased functional connectivity was detected between the right lateral prefrontal cortex seed of the frontoparietal network, which could not be captured with the resting state data, and the precuneus in the MCI group compared to the SCI group. Conclusions: The increase in connectivity between the frontoparietal network and precuneus may be a compensatory response in the early stages of the disease. In addition, it was thought that fMRI images performed using simple sensory stimuli were more sensitive to cognitive decline in the early stages of the disease compared to resting state data and could have biomarker potential.
Introduction: Our aim was to determine whether serum levels of humanin-like 3 (encoded by the MTRNR2L3 gene) may serve as a diagnostic biomarker for differentiation of NMOSD from relapsing remitting multiple sclerosis (RRMS) presenting with clinical features reminiscent of NMOSD. Methods: Humanin-like 3 levels were measured by ELISA in sera of 30 RRMS patients, 10 NMOSD patients, 15 RRMS patients presenting predominantly with spinal cord and optic nerve attacks (MS-SCON) and 23 healthy controls. Results: MS-SCON patients showed significantly higher humanin-like 3 levels than other groups. Receiver operating characteristic (ROC) curve analysis showed that 5.26 ng/ml cut-off value of humanin-like 3 level discriminated MS-SCON from NMOSD by 66.7% sensitivity and 90% specificity. Humanin-like 3 levels did not correlate with demographic and clinical variables of MS and NMOSD. Conclusion: Serum humanin-like 3 level might potentially be used as a biomarker in differential diagnosis of MS patients presenting with NMOSD-like features. Elevated humanin-like 3 levels of MS-SCON patients might be an indicator of increased stress on neuronal survival in this MS subgroup.
Introduction: This study investigates the relationship between NQO1 and NQO2 gene polymorphisms and methamphetamine-associated psychosis (MAP) in the Makassar population. Methods: Case-Control Study to determine the role of the NQO1 and NQO2 genes in the onset of psychotic symptoms due to methamphetamine abuse. The control group consists of individuals who consume methamphetamine without psychotic characteristics (n=139), while the case group consists of individuals who consume methamphetamine with psychotic characteristics (n=128). Results: The NQO1 gene polymorphism demonstrates a significant association with the duration of MAP, with the TT genotype and the T allele occurs more frequently in prolonged cases. The CT genotype is linked to an increased risk of spontaneous relapse, while the TT genotype is more prevalent among patients with polysubstance abuse. Additionally, the NQO2 (I/D) gene polymorphism indicates a trend towards differential genotype distribution in patients with MAP, with the DD genotype appearing more frequently in prolonged cases, and the I allele associated with a heightened risk of spontaneous relapse. Conclusion: These findings suggest that polymorphisms in the NQO1 and NQO2 genes may play a role in the susceptibility to and clinical manifestations of MAP within the Makassar population.
Introduction:Although sleep quality is known to be impaired in individuals diagnosed with bipolar disorder (BD) during manic, depressive, and even euthymic phases, limited research has explored its association with prodromal symptoms. This study aims to investigate the relationship between sleep quality and the frequency and severity of prodromal symptoms in patients diagnosed with bipolar disorder during euthymic periods. Methods:The study included 98 patients with euthymic BD in remission. The participants completed the sociodemographic data form, Pittsburgh Sleep Quality Index (PSQI), Bipolar Prodrome Symptom Scale (BPSS), Young Mania Rating Scale (YMRS), and Hamilton Depression Rating Scale (HDRS). Results:The mean age of the patients was 42.20 ± 11.902. In the patient group with PSQI score>5, BPSS-frequency and BPSS-severity scores were found to be significantly higher (p<0.05). Both BPSS-frequency and severity scores showed significant positive correlations with PSQI scores (p<0.001), and BPSS-frequency score was positively correlated with HDRS scores (p<0.05). No significant differences were observed in BPSS, HDRS, or YMRS scores according to the duration of the disorder (p>0.05). Conclusion:Based on the findings of our study, we conclude that as sleep quality deteriorates during the euthymic phase in patients with BD, the frequency and severity of prodromal symptoms also increase. It is suggested that sleep disturbances in this patient population should be closely monitored even during the euthymic period, as sleep disorders themselves may serve as prodromal symptoms and potentially exacerbate the onset of other prodromal manifestations. Therefore, detailed assessment of sleep problems between episodes-and timely intervention when necessary-may be critical for early detection and prevention of mood episode relapse.
Introduction: Myasthenia gravis (MG) is an autoimmune disease characterized by conduction defects at the neuromuscular junction. Recent studies suggest that impairment in acetylcholine neurotransmission occurs not only at the neuromuscular junction but also in the central and peripheral nervous systems. In this context, we aimed to investigate the presence of auditory and olfactory dysfunction, which are non-motor symptoms (NMS), alongside motor symptoms in patients with MG. Methods: A total of 30 MG patients and 30 healthy controls were enrolled in the study. Demographic characteristics of all participants were recorded. Olfactory functions were assessed using the Connecticut Chemosensory Clinical Research Center (CCCRC) test, while auditory functions were evaluated through pure tone audiometry (PTA) and tympanometric assessment. Additionally, patients were evaluated with MG Foundation of America (MGFA) Clinical Classification, MG-Composite scoring (MGC) and MG-Quality of Life Questionnaire 15-item scale Turkish version (MG-QOL15-T). Results: No statistically significant difference was found between the MG and control groups for the n-Butanol threshold test score, identification test score, and total test score, which are components of the CCCRC test. There was no significant correlation between the age of disease onset and olfactory scores. A statistically significant moderate negative correlation was found between disease duration and both identification and total olfactory scores (r=-0.447, p=0.013 and r=-0.374, p=0.042, respectively). In the PTA test, the hearing threshold at 2000 Hz frequency in the right ear of patients was higher compared to the control group, and this difference was found to be statistically significant. No association was found between the patients' olfactory and auditory functions with the MG-QOL15-T. Conclusion: This study suggests partial impairment in olfactory and auditory functions, NMS, in MG patients; however, these findings do not seem to effect the patients' quality of life. It should be considered that MG may be accompanied not only by motor symptoms but also by NMS.
Introduction:Cytokines, intracellular polypeptides, and chemokines, which belong to a small protein superfamily, are crucial in regulating inflammation and cell migration. Profiling these molecules can offer significant insights into the inflammatory process and aid in predicting disease outcomes. This study seeks to quantify cytokine and chemokine levels in serum and cerebrospinal fluid (CSF) samples from treatment-naïve patients, both with and without poor prognostic indicators, to identify biomarkers indicative of disease activity. Methods:A prospective, observational, cross-sectional study was carried out involving patients diagnosed with Multiple sclerosis (MS) or non-inflammatory neurological disorders at Marmara University Faculty of Medicine. Multiple sclerosis patients were further classified into two groups based on previously established clinical and radiological criteria:those with poor prognostic outcomes and those without. Levels of IL-8, IL-12/IL-23p40, IL-21, CHI3L1, and CXCL13 were measured in both CSF and serum samples using the ELISA method. Statistical analyses were conducted using Stata version 15.1. Results:A total of 56 patients participated in the study. CHI3L1 (p=0.003) and CXCL13 (p<0.001) levels in CSF were significantly elevated in MS patients compared to the control group. Among the MS cohort, serum CXCL13 levels positively correlated with the EDSS score (p=0.04, r=0.39) and the number of spinal cord lesions (p=0.009, r=0.48). Additionally, a significant negative correlation was observed between CSF CXCL13 levels and patient age in the MS group (p=0.03, r=-0.42). Conclusion:Increased CSF levels of CHI3L1 and CXCL13 may serve as potential diagnostic markers for Relapsing-Remitting MS (RRMS) patients. Given the ease of collecting serum samples, further research is necessary to explore the relationship between serum CXCL13 levels, EDSS scores, and spinal cord lesions in larger cohorts.
Introduction:In chronic migraine (CM), patient-reported outcome measures (PROMs) are important, as headaches may be related to impaired proprioception and somatic bodily awareness in the chronicity. This study aimed to adapt the Fremantle Headache Awareness Questionnaire (FreHAQ) to Turkish. Methods:Patients aged 18-70 were included in the study. After cross-cultural adaptation of the questionnaire, demographic-clinical information was recorded. Numeric Pain Rating Scale (NPRS), Migraine Disability Assessment (MIDAS), Headache Impact Test-6 (HIT-6), Hospital Anxiety and Depression Scale (HADS), Pain Catastrophizing Scale (PCS) and FreHAQ were evaluated for structural validity. Exploratory Factor Analysis (EFA) and Confirmatory Factor Analysis (CFA) were also performed. Intraclass Correlation Coefficient (ICC) and Cronbach's α values were calculated for reliability. Results:A total of 180 patients (mean age was 39.94±13.14 years) were included. Headache attacks occurred 17.12±4.53days/month, with 7.57±2.1 intensity. Item-total correlations ranged from 0.079 to 0.673. Cronbach's α value was above 0.811. FreHAQ had good test-retest reliability (ICC=0.851, n=73) and high internal consistency (Cronbach's α=0.919). The absence of a significant difference between baseline and retest scores (p=0.06) supported the temporal stability of FreHAQ. FreHAQ correlated with NPRS, MIDAS, HIT-6, HADS, and PCS (p<0.01). EFA identified a two-factor structure, explaining 56.98% of the variance (proprioceptive-motor awareness (items 1-6,9) and shape-size awareness of the head (items 7,8)). CFA showed acceptable model fit. Conclusion:The Turkish version of FreHAQ is a valid and reliable tool to assess perceptual impairments in CM and is significantly associated with psychosocial factors. Monitoring body awareness in chronic headache can be important for PROMs.
Introduction:Parkinson's disease (PD) is a neurodegenerative disorder caused by the misfolding of alpha-synuclein (α-synuclein) proteins. Despite treatment, misdiagnosis rates can reach up to 50% within the first five years, highlighting the need for reliable biomarkers. However, the presence and role of α-synuclein in lymphatic tissues, such as the tonsils, have not been adequately investigated. The tonsils are accessible lymphatic organs that may serve as potential sites for α-synuclein accumulation due to their rich innervation and immune activity. Therefore, this study aims to investigate and compare α-synuclein levels in the tonsillar tissues of patients with Parkinson's disease and healthy controls. By evaluating the tonsils as a potential site of α-synuclein deposition, this study aims to explore their role as a possible biomarker. Methods:After ethical approval, participants were selected from Neurology Outpatient Clinic diagnosed with idiopathic Parkinson's per UK Parkinson's Disease Society Brain Bank Criteria. The control group comprised individuals undergoing tonsillectomy with no neurological symptoms. We collected and analyzed tonsil tissues from 15 control and 11 PD patients using ELISA to determine α-synuclein concentrations. Data were analyzed using IBM SPSS 25.0, employing Mann-Whitney U and Kolmogorov-Smirnov tests to evaluate differences in α-synuclein levels, with significance set at p<0.05. Results:No significant age or gender differences were noted between groups. PD patients showed higher α-synuclein concentrations in tonsillar tissues compared to controls, with statistical significance. Discussion:Our results suggest that tonsillar tissue could serve as a novel peripheral biomarker, potentially reflecting α-synuclein accumulation in PD. Future studies are needed to clarify the underlying mechanism of α-synuclein deposition in tonsils, its correlation with disease severity and progression and its potential role in monitoring treatment response.
Introduction:Large-artery atherosclerosis (LAA) is common in acute ischemic stroke, before determinants of whether LAA presents symptomatically or remains silent are unclear. We aimed to identify risk factors distinguishing symptomatic from asymptomatic LAA. Methods:We retrospectively analyzed 411 consecutive patients (January 2020-January 2025) with acute ischemic stroke and imaging-confirmed ≥ 50% stenosis/occlusion. Demographics, comorbidities; Hypertension (HT), Diabetes mellitus (DM), Hyperlipidemia (HL), Atrial fibrillation (AF), and fasting laboratories were recorded; triglyceride-to-high-density lipoprotein (TG/HDL) and triglyceride-to-glucose (TG/Gl) indices were calculated. Vascular territory was classified (carotid, vertebrobasilar (VBS), carotid-vertebrobasilar system) via Doppler, brain computerised tomography (CT), and/or magnetic resonance imaging (MRI) angiography. Patients with ≥ 50% stenosis or occlusion in extra or intracranial arteries were classified as having LAA. Those with neurological deficits attributable to LAA were considered symptomatic, while patients with unrelated stroke etiologies were classified as asymptomatic. Group comparisons used chi-square, Mann-Whitney U, and Kruskal-Wallis tests. Results:The mean age was 70.4 ± 10.6 years; 38.2% were women. Territory involvement was 49.6% carotid, 21.2% vertebrobasilar, and 29.2% carotid-vertebrobasilar system. In younger patients (40-60 years), AF was associated with VBS involvement (p = 0.035). In the oldest group (81-99 years), HL was associated with VBS/carotid-VBS atherosclerosis (p = 0.003). Overall, 285 patients were symptomatic and 126 were asymptomatic. Hyperlipidemia was associated with symptomatic LAA (OR = 1.64; p = 0.023), remaining significant in men. AF was more frequent among asymptomatic LAA in those aged 61-99, suggesting cardioembolism predominated the index event while LAA remained silent. TG/HDL was higher in symptomatic women and elevated across symptomatic patients aged 40-80 (p = 0.010; borderline at 61-80 ages, p = 0.050). TG/Gl did not discriminate symptom status in any subgroup. Conclusion:In elderly patients, hypertension; in men, hyperlipidemia; and in women and middle-to-older age groups, elevated TG/HDL are linked to symptomatic conversion of LAA. In the presence of AF, concomitant LAA often remains clinically silent. Tight control of modifiable risks, may delay or prevent symptomatic transition of LAA and is an alternative for patients ineligible for intervention.
Introduction: The genetic basis of autism spectrum disorder (ASD) is highly heterogeneous and continues to be elucidated through syndromic associations. Floating-Harbor Syndrome (FHS) is a rare genetic disorder caused by SRCAP mutations and is characterized by short stature, expressive language delays, and distinct craniofacial features. This report aims to present the diagnostic process and clinical challenges of a child diagnosed with both FHS and ASD. Case: A 9-year-old boy presented with social communication difficulties, restricted interests, and sensory hypersensitivity. Psychometric testing demonstrated average intellectual functioning (IQ: 94), while behavioral assessments revealed significant hyperactivity and behavioral dysregulation, in addition to severe autism as measured by the Childhood Autism Rating Scale (CARS). Based on DSM-5 criteria, he was diagnosed with ASD. Persistently elevated amylase and lipase levels prompted genetic evaluation, which confirmed FHS with an SRCAP mutation. Discussion: This case underscores the diagnostic challenges of differentiating syndrome-specific features from true comorbid ASD when overlapping symptoms such as language delay and behavioral problems are present. These findings highlight the importance of comprehensive psychiatric and genetic evaluation in children with complex developmental profiles, and highlights the need for systematic screening for neurodevelopmental disorders in rare genetic syndromes.
Introduction: The present study aims to evaluate the psychometric properties of the Turkish versions of the Brief Hopelessness Scale with positive and negative valence, Brief-H-Pos and Brief-H-Neg, in adolescents who presented to child and adolescent psychiatry outpatient clinics. Method: The study sample consisted of 248 adolescents aged 12 to 17 years who presented to child and adolescent psychiatry outpatient clinics in two urban centers: Adana and Istanbul. To assess concurrent validity, Pearson's correlation coefficients were calculated to examine the relationships among the Brief-H-Pos, Brief-H-Neg, Beck Hopelessness Scale (BHS), and Beck Depression Inventory (BDI) scores. Reliability was evaluated using Cronbach's alpha, the Spearman-Brown coefficient, and item-total correlations. Receiver Operating Characteristic (ROC) curve analyses were conducted to determine the diagnostic utility of the Brief-H-Pos and Brief-H-Neg in identifying adolescents with suicidal ideation. Results: Both the Brief-H-Pos (r = 0.674) and Brief-H-Neg (r = 0.703) demonstrated strong correlations with BDI scores. Additionally, the Brief-H-Pos (r = 0.745) and Brief-H-Neg (r = 0.753) were highly correlated with the BHS, supporting convergent validity. The internal consistency of the Brief-H-Pos was acceptable, with both Cronbach's alpha and the Spearman-Brown coefficient equal to 0.826. Cronbach's alpha for the Brief-H-Neg was 0.816, and the Spearman-Brown coefficient was 0.778. The area under the curve (AUC) for the Brief-H-Pos and Brief-H-Neg was 0.745 and 0.780, indicating good discriminative capacity. DeLong's test showed that there was no significant difference between the AUC values of the Brief-H-Pos, Brief-H-Neg, and BHS, suggesting comparable discriminative ability. Conclusion: Both Brief-H-Pos and Brief-H-Neg are valid and reliable instruments for assessing hopelessness in Turkish adolescents. These results also suggest that both brief instruments demonstrate comparable diagnostic capability to the BHS in identifying suicidal ideation, despite their reduced length.
Introduction:This study aimed to determine the prevalence of sexual dysfunction (SD) in patients diagnosed with substance use disorder (SUD) and to examine its association with sociodemographic and clinical characteristics. Methods:A total of 176 patients (157 males, 19 females) aged between 18 and 45 years and diagnosed with SUD were included in the study. The patients were divided into three groups: those with single SUD, those with multiple SUD, and those receiving buprenorphine-naloxone (BPN) treatment. Patient information was recorded in a data collection form. Patients were asked to complete the Hospital Anxiety and Depression Scale (HADS). To evaluate sexual functions, the International Index of Erectile Function (IIEF), the Premature Ejaculation Diagnostic Tool (PEDT), and the Arizona Sexual Experiences Scale-Male Version (ASEX-M) were administered to male patients; the Female Sexual Function Index (FSFI), and the Arizona Sexual Experiences Scale-Female Version (ASEX-F) were administered to female patients. Results:Among male patients, the prevalence of erectile dysfunction (ED) was found to be 49.7%, and the prevalence of premature ejaculation (PE) was 48.4%. No significant differences were found between the groups in terms of the prevalence of ED (p=0.970) and PE (p=0.287). Similarly, no significant differences were observed in the scores of IIEF (p=0.957), PEDT (p=0.476), and ASEX-M (p=0.852). In male patients, a negative correlation was identified between the severity of anxiety symptoms and the IIEF subscale scores of overall satisfaction (r=-0.171, p=0.032). Depression symptom severity was negatively correlated with the IIEF total score (r=-0.381, p < 0.001), as well as with the subscale scores of erectile function (r=-0.349, p<0.001), sexual desire (r=-0.228, p=0.004), intercourse satisfaction (r=-0.217, p=0.006), overall satisfaction (r=-0.375, p<0.001), and orgasmic function (r=-0.337, p<0.001). The prevalence of SD among female patients was found to be 78.9%. Conclusion:Sexual dysfunction outcomes were comparable among individuals with single SUD, multiple SUD and those undergoing BPN treatment. Moreover, the negative impact of co-occurring depressive and anxiety symptoms on sexual functioning highlights the need for a multidimensional approach to the assessment and management of sexual health in individuals with SUD.
Introduction: Olfactory auras, in the form of hallucinations or phantosmia without an actual stimulus, have been very rarely reported in patients with migraine. This case report aims to raise awareness by presentinga patient whose condition was delayed in diagnosis, resulting in significant weight loss. Case: An 18-year-old female presented with complaints of a foul smell sensation that began a year ago, followed by headaches, loss of appetite, and weight loss. The patient experienced a sensation of rotting and burnt plastic odors lasting 2-12 hours, followed by severe, widespread throbbing headaches lasting 2-6 hours. Her past medical history was unremarkable, and her physical examination was within normal limits. Laboratory tests showed low vitamin D3 levels and low-positive nonspecific antinuclear antibody (ANA) titers. Electroencephalography (EEG) was normal, and brain magnetic resonance imaging (MRI) revealed a few millimetric nonspecific ischemic gliotic foci without other abnormalities. Otorhinolaryngology (ENT) and psychiatric evaluations were unremarkable. The patient's symptoms were largely controlled with lamotrigine treatment. Results: Due to the rarity of olfactory hallucinations in migraine attacks, patients may experience delays in obtaining an accurate diagnosis and management. Increasing clinical awareness of this rare presentation is therefore of paramount importance.
Introduction:Contrast enhanced magnetic resonance imaging (MRI) could not be performed in all patients due to some contraindications. We aimed to demonstrate the characteristics of brain metastases that could be diagnosed with positron emission tomography - computed tomography (PET-CT) among patients with lung cancer. Methods:Four hundred thirty nine patients diagnosed with lung cancer and brain metastasis between 2019 and 2023 were evaluated. A total of 642 brain metastasis lesions were identified, of which 286 were detectable on PET-CT. Univariate and multivariate logistic regression analyses were used to identify independent predictors of PET-CT positivity. Results:Out of all patients, 86.6% were male and the mean ± SD age was 64.8±9.3. Comorbidities were present in 205 patients (46.7%), with chronic obstructive pulmonary disease (COPD) being the most prevalent (27.1%). The majority of metastases were located in the frontal lobe (37.2%) followed by the parietal lobe (26.6%). Notably, PET-CT negative lesions were more likely to have peritumoral edema than PET-CT positive lesions had (67% vs. 56%, p=0.004). The median tumor diameter for PET-CT positive lesions was larger than PET-CT negative lesions (18 vs 10 mm, p<0.001). The discriminative accuracy of tumor diameter in predicting PET-CT positivity was found to be high, with an area under the curve (AUC) of 0.70 (95% CI: 0.65 to 0.73). For an optimal cut-off value of 14 mm, sensitivity of tumor diameter was 71.68% and specificity was 58.71. Conclusion:Brain metastases larger than 14 mm and those without peritumoral edema tend to have increased detectability with PET-CT in a large group of lung cancer patients. Since the diagnostic role of PET-CT could not be fully analyzed due to the study design, further research including patients without brain metastases is recommended.
