Trigeminal involvement in multiple sclerosis (MS) may remain clinically silent despite measurable functional disturbance. Subclinical dysfunction of afferent pathways can precede overt neurological findings. We aimed to investigate whether pulp sensibility testing can detect subclinical trigeminal afferent dysfunction in patients with MS who have no clinical evidence of trigeminal neuropathy. Thirty-nine patients with MS (19 relapsing-remitting and 20 progressive) and 27 healthy controls were included. Electric pulp testing (EPT) and cold stimulation were applied to the right maxillary central incisor in all participants. For EPT, sensory threshold values were recorded. For the cold test, response latency was measured in seconds. Correlation analyses were performed to assess associations with age and disease duration. Compared with controls, patients with MS demonstrated higher EPT thresholds and prolonged cold response times. Within the MS cohort, both measures were greater in progressive disease. The difference reached statistical significance for cold testing (7.15±3.60 vs 4.89±2.58 s, p=0.038), whereas EPT values showed a similar but non-significant trend (9.80±4.15 vs 7.84±4.59, p=0.084). Age correlated weakly with cold response latency (rs=0.321, p=0.046) and EPT values (rs=0.326, p=0.043). Disease duration showed a weak correlation with EPT (rs=0.334, p=0.037), but not with cold responses. Despite the limitations of our study, our results indicate that pulp sensibility testing may provide meaningful information regarding the functional status of trigeminal afferent pathways. The more pronounced alterations observed in the progressive disease subgroup are consistent with cumulative conduction disturbance along the trigeminal system. Further studies directly comparing this approach with trigeminal SEP and high-resolution brainstem MRI are needed to better define its diagnostic value and clinical relevance.
Intermittent subcutaneous (SC) apomorphine is a fast-acting dopamine agonist used in the management of motor fluctuations in advanced Parkinson's disease (PD). While its motor benefits are well established the effects on non-motor domains and the modifying role of chronological age remain less certain. This prospective observational study aimed to evaluate the effectiveness of intermittent SC apomorphine on motor and non-motor outcomes in idiopathic PD patients with persistent motor fluctuations despite optimized oral therapy, and to examine whether age influenced therapeutic response. Thirty-five idiopathic PD patients treated with intermittent SC apomorphine were followed for twelve weeks and assessed at baseline and week 12. Motor outcomes included Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS) Part III and diary-based daily "off" and "on" time without dyskinesia. Non-motor outcomes comprised the Montreal Cognitive Assessment (MoCA), Beck Depression Inventory (BDI), Parkinson's Disease Questionnaire (PDQ-8), and Parkinson's Disease Sleep Scale (PDSS). Subgroup analyses compared outcomes between patients aged <45 and ≥45 years and interaction effects were explored. MDS-UPDRS Part III scores improved from 45.71 (SD 11.93) to 29.86 (SD 12.24) (p <0.001). Mean daily "off" time decreased from 5.60 (1.65) to 2.26 (0.95) hours, while "on" time without dyskinesia raise from 10.34 (1.76) to 13.89 (0.93) hours (both p <0.001). Non-motor outcomes also improved: BDI declined from 23.03 (5.70) to 18.09 (4.87), MoCA increased from 15.74 (5.51) to 18.03 (6.05), and PDQ-8 from 22.80 (5.60) to 17.54 (5.84) (all p <0.001). Parkinson's disease sleep scale showed no significant change. No significant age-by-treatment interaction effects were detected. Intermittent subcutaneous apomorphine was associated with significant improvements in multidimensional aspects, including motor and various non-motor domains, which are closely related to cognition, mood, and quality of life in PD. Benefits were consistent across age groups, indicating chronological age does not influence efficacy.
Isocitrate dehydrogenase(IDH)-mutant astrocytomas represent a biologically distinct but clinically heterogeneous lineage. In the World Health Organization Central Nervous System 5 (WHO, CNS) classification, CDKN2A/B homozygous deletion is a grade 4-defining alteration, while Epidermal growth factor receptor (EGFR) amplification is primarily associated with IDH-wildtype glioblastomas. This study evaluates the frequency and prognostic significance of these alterations in strictly defined IDH-mutant astrocytomas. We analyzed 39 supratentorial IDH-mutant astrocytomas diagnosed between 2016 and 2020. CDKN2A/B deletion and EGFR amplification were assessed via routine fluorescence in situ hybridization (FISH) based testing and correlated with histologic parameters and clinical outcomes. CDKN2A/B deletion was identified in 61.5% of cases; however, high-level homozygous deletion (≥30% of nuclei) was present in only two cases. Epidermal growth factor receptor amplification was absent in all evaluable tumors. Neither WHO grade nor mitotic activity demonstrated a significant correlation with overall or disease-free survival. Notably, patients with high-level CDKN2A/B homozygous deletion remained alive without high-grade transformation at last follow-up. These findings highlight the limited prognostic value of morphology within this molecular lineage and underscore the necessity of integrating molecular biomarkers into diagnostic frameworks. Larger multicenter cohorts with extended follow-up are essential to clarify the long-term prognostic significance of specific CDKN2A/B alterations.
Given the critical significance of cognitive functions in daily life and social interactions, the Screen for Cognitive Impairment in Psychiatry (SCIP) scale is particularly important in clinical practice. It can be administered quickly and offers alternative forms, avoiding issues with lengthy administration or a lack of parallel forms. This study examined the psychometric properties of the Turkish version of the SCIP scale (SCIP-TR), which enables rapid and practical assessment of cognitive impairment in psychiatric settings. This study involved 137 healthy students and hospital staff aged 18-45. Three alternative forms of the SCIP scale were adapted into Turkish using direct and reverse translation methods, and experts approved them to ensure content validity. Participants were administered one of the three alternative forms of the SCIP-TR and the Brief Cognitive Assessment Tool for Schizophrenia (B-CATS), the Standardized Mini-Mental State Examination (SMMSE), and the Cognitive Failures Questionnaire (CFQ) scales. Test-retest reliability was evaluated using different forms of the SCIP-TR at 2-7 day intervals. The feasibility, reliability, and validity of the SCIP-TR forms were examined. The analysis showed no significant differences between the three forms in total scores. Cronbach's alpha (0.715-0.750) and omega coefficients (0.709-0.784) demonstrated that the scale had acceptable internal consistency. Correlation coefficients confirmed the scale's test-retest reliability. The exploratory factor analysis unveiled a single-factor structure that accounted for 50.2% of the total variance. The moderate correlation of SCIP-TR with B-CATS, which measures similar cognitive domains, supports convergent validity. Findings demonstrate the validity and reliability of the Turkish version of the SCIP as a simple and practical tool for screening cognitive impairment in the general population. Its simplicity, brevity, and lack of need for a technological platform make it suitable for integration into clinical practice. Further research on SCIP-TR is needed in a more diverse demographic, including those with mental health disorders.
Multiple sclerosis (MS) is the leading cause of disability in young adults. We aimed to monitor disease progression characteristics using cognitive and physical parameters with optical coherence tomography (OCT) and Magnetic Resonance Spectroscopy (MRS). Fifteen relapsing remitting (RRMS), thirteen secondary progressive (SPMS) and twelve primary progressive (PPMS) patients were included. The Expanded Disability Status Scale (EDSS), Nine-Hole Peg Test (9 HPT), Timed 25-Foot Walk Test (T25FWT), Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS), Montreal Cognitive Assessment (MoCA), MRS and OCT examinations were performed at baseline and follow-up. EDSS, Beck Depression Scale scores, 9-HPT and T25FWT duration scores were higher in the PPMS group compared to the other groups, whereas MoCA, SDMT, CVLT2, and BVMT-R scores were the lowest in this group. Retinal nerve fiber layer (RNFL) measurements in the right (p=0.023) and left (p=0.028) nasal quadrants were found to be higher in the RRMS group compared to the progressive groups. Baseline MRS showed a lower Thalamus myoinositol/creatinine (mI/Cr) ratio in progressed patients compared to stable patients (p=0.003). A cut-off value of baseline Thalamus mI/Cr ratio <0.066 for predicting disease progression based on baseline Thalamus mI/Cr was determined to be <0.066, with an 81.82% sensitivity, and 79.17% specificity, 64.29% positive predictive value (PPV), and 90.48% negative predictive value (NPV) (p=0.003). Early detection of disease progression has critical importance for MS. Besides prognostic serum or cerebrospinal fluid biomarker tests, noninvasive methods such as disability scales and/or imaging techniques may have a significant impact and are easily replicable. As an advanced imaging technique, MRS has the potential for ongoing tissue inflammation. In parallel with that, we have obtained a cut-off thalamic mI/Cr ratio value as a significant predictor of disease progression in MS patients.
Lateral temporal lobe epilepsy (LTLE) is characterized by auditory auras and is often associated with genetic factors. Previous studies have identified various genes linked to LTLE, including LGI1. However, there remains a need to explore other genetic variants that contribute to the LTLE phenotype, particularly in the absence of LGI1 mutations. A cohort followed in our epilepsy center and diagnosed as LTLE with auditory aura was recruited to the study. We have performed whole exome sequencing data analysis of 19 patients using a two-step approach. In the first step, we have focused on six LTLE associated genes, namely LGI1, RELN, MICAL1, CNTNAP2, DEPDC5 and SCN1A. In the second step, the data was filtered against a list of epilepsy related genes. Our analysis identified novel variants in LTLE-associated genes, including RELN, SCN1A, and CNTNAP2, which confirmed previous findings. Importantly, for the first time, we identified a loss-of-function variation in the CHRNB2 gene that may be associated with the LTLE phenotype. Our study underscores the genetic heterogeneity of lateral temporal lobe epilepsy (LTLE) by identifying new genetic variants linked to the disorder. Notably, we propose that CHRNB2 is a novel gene associated with LTLE, thereby broadening the spectrum of known genetic contributors. This finding highlights the complexity of LTLE's genetic landscape and suggests new pathways for future research and clinical application.
This study investigates the relationship between NQO1 and NQO2 gene polymorphisms and methamphetamine-associated psychosis (MAP) in the Makassar population. 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). 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. 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.
Attention-deficit/hyperactivity disorder (ADHD) is increasingly recognized as a condition with both neurodevelopmental and neurodegenerative components. This study aims to investigate retinal structural alterations in adults diagnosed with ADHD using optical coherence tomography (OCT) and to identify potential retinal biomarkers. The study included 31 adults diagnosed with ADHD according to DSM-5 criteria and 33 age- and sex-matched healthy controls. Retinal measurements were obtained from the right eye of all participants using the Spektralis® OCT system in accordance with the ETDRS protocol. Retinal nerve fiber layer (RNFL), ganglion cell layer (GCL), inner plexiform layer (IPL), ganglion cell complex (GCC), and central macular thickness (CMT) were measured. ADHD symptom severity was assessed using the Adult ADHD Self-Report Scale (ASRS). Group comparisons were made using independent t-tests, and correlations with clinical measures were evaluated using Pearson correlation analysis. Compared to healthy controls, the ADHD group showed a statistically significant thinning in the CMT, IPL, and GCC layers, especially at the 1 mm zone (p < 0.05). CMT (254.3 µm vs. 268.7 µm), IPL (35.2 µm vs. 38.4 µm), and GCC (78.5 µm vs. 82.3 µm). Similar thinning patterns were observed at the 3 mm zone for CMT and GCC, and at the 6 mm zone for IPL. No statistically significant differences were found in RNFL and GCL measurements. Thinning in specific retinal layers was significantly correlated with higher ADHD severity scores. Our study demonstrates that adults with ADHD exhibit measurable retinal thinning, particularly in the CMT, IPL, and GCC layers. These structural changes may reflect underlying neurodegenerative processes and suggest that retinal imaging via OCT could serve as a useful non-invasive biomarker in adult ADHD.
Multiple sclerosis (MS) is a multifactorial disease resulting from the interaction of genetic and environmental factors. Although several genetic polymorphisms have been associated with MS pathogenesis, the role of atypical chemokine receptors (ACKRs) remains insufficiently elucidated. Experimental studies suggest that CCRL2, an ACKR, may play a role in the chronic phase of the disease. This study aimed to investigate whether the CCRL2 F167Y polymorphism is associated with MS susceptibility, age at disease onset, and disease severity. A total of 134 patients with MS, diagnosed according to the 2017 McDonald criteria, and 44 healthy controls were included. The CCRL2 F167Y (rs3204849) polymorphism was analyzed using the PCR-RFLP method. Genotype and allele frequencies and their associations with clinical parameters were evaluated using appropriate statistical analyses. No significant differences in genotype or allele distributions were observed between patients and controls. The F167Y polymorphism was not associated with MS susceptibility, age at onset, or EDSS scores. The CCRL2 F167Y polymorphism is not associated with MS pathogenesis or disease severity in the Turkish population. However, the present findings need to be confirmed and reinforced in future studies using large-scale populations with different ethnicities.
Myasthenia gravis (MG) is an autoimmune disease that is caused by autoantibodies targeting the neuromuscular junction. A few studies in the literature show that MG may negatively affect muscle metabolism. However, no current study investigates MG pathophysiology's effect on muscle oxygenation. In this study, we aimed to investigate the difference in muscle oxygenation in MG disease and to evaluate its clinical Pathophysiological implications. 19 MG patients and 19 age, gender and body mass index (BMI) matched healthy controls participated in the study. Functional near-infrared spectroscopy (fNIRS) recordings were recorded from six channels over the biceps brachii muscles during the rhythmic elbow flexion-extension task. It was observed that oxygenated-hemoglobin (HbO) (p = 0.008) and total hemoglobin (HbT) (p = 0.017) values during exercise were significantly lower in MG patients in the motor point of the biceps brachii muscle. In addition, at rest, deoxygenated-hemoglobin (HbR) levels were significantly lower in patients (p<0.05) in the motor point and the lateral region of the biceps brachii muscles. Additionally, a difference is observed in fNIRS values between the moderate-severe MG group and healthy controls. Also, a negative correlation was observed between exercise-state HbO and rest-state HbR values and disease severity (p<0.05). MG patients show deterioration in muscle oxygenation values during exercise and rest. Oxygenation values show significant differences in disease severity and negatively correlate with disease severity. Based on these findings, MG disease may affect muscle oxygenation and can be monitored by fNIRS.
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. 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. 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%. 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.
The present study aimed to examine the psychometric properties of the Brief Pittsburgh Sleep Quality Index (B-PSQI) in a Turkish adult population. 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). 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. 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.
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. 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. 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. 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.
Bipolar disorder is a complex psychiatric condition marked by recurrent episodes of mania and depression. Despite its prevalence, the underlying pathophysiology remains poorly understood, and there is still a lack of objective biomarkers for diagnosis. Metabolomics is a promising approach for exploring biological alterations associated with specific mood states. This study aimed to investigate differences in the urinary metabolome between patients with bipolar disorder in the manic phase and healthy controls. Urine samples were collected from 22 manic bipolar disorder patients and 31 healthy controls. Samples were analyzed using Ultra-High Performance Liquid Chromatography Mass Spectrometry. The data were processed using MZmine and TidyMass, and then subjected to statistical and multivariate analyses in MetaboAnalyst 5.0. Metabolites showing significant fold changes were then evaluated using a receiver operating characteristic analysis. The levels of two phosphatidylcholine derivatives, 1.2-dioleoyl-sn-glycero-3-phosphatidylcholine and 1-stearoyl-2-linoleoyl-sn-glycero-3-phosphocholine, were significantly higher in the manic group (p<0.05). Receiver Operating Characteristic analysis revealed that these metabolites had limited discriminatory performance when evaluated individually. The findings suggest that the manic phase of bipolar disorder is associated with alterations in urinary lipid-related metabolites. While the identified metabolites exhibited modest diagnostic value individually, they could potentially reflect phase-specific metabolic changes relevant to bipolar disorder. These exploratory results warrant further investigation in larger longitudinal studies that include different mood states.
While tissue sampling through brain biopsy is rarely required throughout the Multiple sclerosis (MS) disease course, it remains essential in cases with atypical clinical or radiological findings where other diagnostic methods are inconclusive. This study aims to present brain biopsy findings in patients diagnosed with MS. MS patients were screened from the national database. Brain MRI scans of all MS patients who underwent brain biopsy were reviewed to confirm the compliance of MAGNIMS criteria. Data on MS diagnosis, biopsy date, disease-modifying therapy (DMT) use, and the duration of DMT exposure prior to biopsy were also collected. Pathology reports of brain biopsies were reviewed with these parameters. Among 87,640 MS patients, 21 patients had brain biopsies after MS diagnosis, highlighting the rarity (0.02%) of this invasive procedure, with a median age at biopsy of 43 (IQR: 13) years. Pathological findings revealed 12 malignant diagnoses, including lymphoma, glioblastoma, metastasis, and nine non-malignant conditions, such as vasculitis, demyelination, and benign masses. Brain biopsy is rarely required in patients with MS; however, it should be considered in cases of atypical lesion development, underscoring the need for meticulous clinical monitoring.
Cluster headache (CH) is a primary headache disorder classified under trigeminal autonomic cephalalgias, characterized by severe, disabling pain attacks. In treatment-resistant cases, where pharmacological interventions are insufficient, peripheral nerve blocks have emerged as a promising interventional option. This study aimed to compare the efficacy of isolated greater occipital nerve (GON) block with combined GON, supraorbital nerve (SON), and sphenopalatine ganglion (SPG) blocks in reducing attack frequency, pain intensity, and treatment response in patients with CH. This retrospective study included 44 patients diagnosed with CH according to the The International Classification of Headache Disorders, 3rd edition (ICHD-3) criteria, who were treated at Ankara Bilkent City Hospital Neurology Clinics between August 2021 and December 2024. those who received GON block alone (n=18) and those who underwent combined GON+SON+SPG blocks (n=26). Demographic and clinical data were collected. Attack frequency, pain duration, and Barrow Neurological Institute Pain Scale (BNI-PS) scores were evaluated at baseline, and at the 1st week and 1st month following intervention. Compared to the GON-only group, patients in the combined block group showed significantly greater reductions in both attack frequency and BNI-PS scores at both follow-up points (p<0.05). Moreover, the duration of pain resolution was significantly shorter in the combined block group (8.96 ± 6.13 days vs. 18.28 ± 17.89 days; p=0.046). No significant differences were found between the groups in terms of baseline demographic or other clinical variables. Our findings suggest that combined peripheral nerve blocks involving the GON, SON, and SPG are more effective than GON block alone in reducing attack burden and pain duration in patients with CH. This interventional approach may offer a valuable alternative for patients who are unresponsive to conventional medical therapies.
From the perspective of the developmental correlation between the face and brain, quantitative craniofacial findings such as tooth size may indicate important stages of neurodevelopment in the pathogenesis of schizophrenia. The aim of this study was to evaluate and compare maxillary tooth size and some dental anomalies in patients with schizophrenia in a blinded manner with non-psychiatric controls. A total of 200 participants (100 patients with schizophrenia and 100 control subjects) aged 18-45 were included in the study. Plaster dental models were prepared from the measurements of the maxillary dental arch. The mesiodistal (MD) and buccolingual (BL) dimensions of the maxillary teeth were measured on dental casts by two observers using digital calipers. In addition to dimensional assessments, dental abnormalities such as tooth rotation, diastema, tooth crowding, and peg-shaped lateral incisors were also recorded. There was no statistically significant difference between the groups in terms of age and sex (p >0.05). Statistical analyses showed that patients with schizophrenia exhibited significantly smaller measurements in both MD (P <0.001) and BL (p <0.001) dimensions across all teeth evaluated. Furthermore, multivariate binomial logistic regression revealed MD size (B=-2.020, p <0.001) and the presence of diastema (Β=1.656, p <0.001) as significant independent predictors of schizophrenia. Reduction in tooth size and increased presence of diastema in patients with schizophrenia may contribute to the hypothesis that there are possible variations that may represent specific markers of embryological dysmorphogenesis underlying schizophrenia.
Earthquakes are frequent and devastating disasters, causing significant physical and psychiatric consequences, particularly posttraumatic stress disorder (PTSD). To the authors' knowledge, this study is the first to investigate PTSD in adolescents raised in residential care after a natural disaster. 48 adolescents in residential care and 54 living with families, aged 12-18 years, participated. Initial interviews were conducted one month after the earthquake, with follow-ups at three months. Assessment tools included the Childhood Trauma Questionnaire (CTQ), Children's PTSD Reaction Index, and Schedule for Affective Disorders and Schizophrenia for School-Age Children. Posttraumatic stress disorder severity significantly decreased in family-raised adolescents (t=3.986, p <0.001), but no change was seen in residential care adolescents (t=0.584, p=0.563). Comorbid psychiatric disorders were less frequent in family-raised adolescents (χ²=18.785, p=0.001). While no significant difference in total CTQ scores was found (z=-0.417, p=0.677), subscales showed significant differences between two groups. A backward binary logistic regression analysis revealed that lower levels of physical neglect were a statistically significant predictor of PTSD (p=0.024). Although not reaching statistical significance, increased sexual abuse (p=0.075) emerged as a relevant predictor of PTSD. Adolescents in residential care had more persistent PTSD symptoms, greater childhood adversity, and higher psychiatric comorbidities than those in family care. Decrement in physical neglect and increased sexual abuse were PTSD predictors, although only the former reached statistical significance. Further research with larger samples and longer follow-ups is needed.
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. A 9-year-old boy presented with social communication difficulties, restricted interests, and sensory hypersensitivity. Psychometric testing demonstrated average intellectual functioning (. 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. 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.
Peripheral type cranial neuropathies (PCNP) other than idiopathic peripheral facial paralysis are quite rare. In this study, we analysed patients with PCNP who were treated in our inpatient clinic. The patients who were hospitalized, examined and treated in our clinic between 1/1/2018 and 31/12/2023 were examined retrospectively. Sixty-three (34 men) out of total 3593 patients were found to have isolated PCNP. Demographic data, aetiologies, cerebrospinal fluid (CSF) findings, treatments and course of these patients were documented. The average age of the patients was 56.25±15.55 years. Forty-three patients had single (unilateral/bilateral) and 20 had multiple PCNP. The most common involvement was seen in the VI. cranial nerve (24 isolated, 16 with other cranial neuropathies). The most common etiology was autoimmune/inflammatory (25 patients), followed by peripheral nerve ischemia (23 patients), infectious (6 patients), and tumoral infiltration (5 patients). Two patients with multiple PCNP had tumoral infiltration, Herpes infection in 2, COVID-19 in 2, Brucellosis in 1, and tuberculous meningitis in 1. Ischemic causes were most commonly associated with diabetes-related microvascular damage. Magnetic resonance imaging (MRI) examination revealed tumoral infiltration in 5 patients. Other MRI findings were cavernous sinus involvement and contrast enhancement of cranial nerves. CSF was examined in 53 patients; CSF protein was high in 20; pleocytosis was observed in one. Among peripheral cranial nerves, VIth is the most commonly involved, alone/together with other cranial nerves (CN). Inflammatory causes most commonly play a role in the etiology of PCNP. Malignancy and infectious etiologies should be considered first in patients with multiple cranial neuropathies (CNPs).