This case report investigates the diagnostic difficulties associated with persistently elevated calcitonin levels in a patient with nodular thyroid disease, where biochemical evidence strongly indicated medullary thyroid carcinoma (MTC), yet histopathological analysis ultimately identified benign nodular hyperplasia with C cell activation. We describe a 35-year-old male with hypothyroidism who exhibited persistently elevated serum calcitonin levels (35–47 ng/L). The diagnostic assessment comprised thyroid autoantibody panels, high-resolution ultrasound, serial fine-needle aspiration cytology (FNAC) with calcitonin washout measurements, a calcium stimulation test, and genetic testing for RET proto-oncogene mutations. The patient then had a total thyroidectomy and removal of the central lymph nodes. The preoperative workup showed that the levels of anti-thyroglobulin and anti-thyroid peroxidase antibodies were very high, and the TSH level was also high (8.1 mIU/L). An ultrasound revealed two iso- to hypoechoic nodules and several cervical lymph nodes that appeared suspicious. FNAC results differed among samples: some were Bethesda II–III, while others were non-diagnostic. One nodule had a calcitonin washout level of 92 ng/L. The calcium stimulation test yielded a robust positive response, with peak calcitonin levels surpassing 500 ng/L (579 ng/L at 2 minutes). The genetic test for RET mutations came back negative. Following total thyroidectomy, histopathology confirmed nodular hyperplasia without evidence of MTC and all resected lymph nodes showed only reactive changes. After surgery, serum calcitonin levels returned to normal. This case demonstrates that a combination of moderately elevated basal calcitonin levels, a positive calcitonin washout from FNAC, and a strong response to calcium stimulation—exceeding recently suggested sex-specific thresholds—does not conclusively indicate MTC. Nodular hyperplasia with functional C cell activation can closely resemble the biochemical profile of medullary carcinoma. Our results demonstrate the importance of integrating biochemical, cytological, and histopathological data to avoid overly aggressive surgery. Reporting these cases helps to improve diagnostic thresholds and shows that a careful, step-by-step approach is needed to evaluate hypercalcitoninemia, particularly in distinguishing between nodular hyperplasia and medullary carcinoma.
Objective: To investigate the prognostic value of the natural logarithm of the Endothelial Activation and Stress Index (ln-EASIX) for mortality and readmission outcomes in hospitalized patients with cirrhosis, and to compare its discriminative performance with the Model for End-Stage Liver Disease–Sodium (MELD-Na) score. Methods: This retrospective cohort study included 244 hospitalized patients with cirrhosis. Because the EASIX values demonstrated a right-skewed distribution, logarithmic transformation was applied before the analysis. Patients were categorized into low- and high-ln-EASIX groups using the receiver operating characteristic (ROC) curve -derived optimal threshold determined by the Youden index for 30-day mortality in the analytic dataset. Baseline demographic, clinical, and laboratory characteristics were compared between the groups. Mortality and readmission were assessed, and receiver operating characteristic analysis was performed to evaluate the discriminative ability of the selected endpoints. Readmission analyses were considered secondary endpoints. Results: Thirty-day mortality was higher in the high ln-EASIX group than in the low ln-EASIX group (11.6% vs. 1.6%, p = 0.004). ln-EASIX demonstrated moderate discrimination for 30-day mortality area under the curve (AUC) 0.725, 95% confidence interval (CI) 0.613–0.837, whereas MELD-Na showed numerically higher discrimination (AUC 0.782, 95% CI 0.692–0.872). In a MELD-Na-adjusted logistic regression model, ln-EASIX was not independently associated with 30-day mortality (adjusted OR 1.72, 95% CI 0.82–3.62, p = 0.153). CONCLUSION: In hospitalized patients with cirrhosis, a higher ln-EASIX was associated with a more advanced disease profile and worse early outcomes. ln-EASIX may serve as a simple adjunctive marker for early bedside risk stratification; however, the findings should be interpreted cautiously until validated in larger studies with explicit cutoff definitions, multivariable modeling, and formal model-comparison analyses.
Introduction: Large adrenal tumors (≥8 cm) are associated with a high risk of malignancy, although their pathological distribution varies across institutions. Clarifying their clinical and biochemical features is essential for appropriate surgical decision-making. This study aimed to evaluate the clinical presentation, hormonal activity, surgical management, and histopathological outcomes of adrenal tumors ≥8 cm. Methods: This retrospective study included patients who underwent adrenalectomy at a tertiary endocrine center and had a tumor size ≥8 cm on histopathology. Demographic data, hormonal evaluation, radiological findings, and follow-up outcomes were analyzed. Results: Twenty-six patients (mean age 50.85 ± 13.04 years; 57.7% women) were included. Tumors were incidentally detected in 46.2% of cases. Hormonal hypersecretion was present in 46.2% of patients, most commonly catecholamine excess (34.6%). Pheochromocytoma was the most frequent diagnosis (38.5%), followed by adrenocortical carcinoma (15.4%). Overall, 46.2% of masses were malignant. Malignant tumors were significantly larger than benign ones (p = 0.041). Laparoscopic adrenalectomy was performed for smaller lesions than those treated by open surgery (p = 0.003). During follow-up, 58.3% of malignant cases developed metastases; two patients achieved remission. CONCLUSION: Adrenal tumors ≥8 cm demonstrate marked clinical and pathological heterogeneity. Although tumor size is associated with malignancy, the high prevalence of pheochromocytoma in referral centers highlights the importance of comprehensive biochemical evaluation. Management should be individualized using a multidisciplinary approach rather than relying solely on tumor size.
Objective: The impact of in utero exposure to maternal severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection on neonatal health, particularly in the absence of active infection at delivery, remains incompletely understood. This study evaluated early neonatal outcomes and short-term follow-up among infants exposed to maternal Coronavirus Disease-2019 (COVID-19) during pregnancy, compared with unexposed neonates. Methods: This retrospective observational cohort study was conducted at Gazi University Faculty of Medicine Hospital, a tertiary university hospital with a Level IV NICU, between March 2020 and August 2021. Neonates who tested polymerase chain reaction (PCR)-negative at delivery and were born to mothers with PCR-confirmed SARS-CoV-2 infection during pregnancy were classified as exposed, while neonates born to mothers without a history of COVID-19 during pregnancy served as controls. Neonatal outcomes during hospitalization and at one-month follow-up were assessed. Results: A total of 196 neonates were included, of whom 112 were exposed in utero to maternal COVID-19. Neonatal intensive care unit (NICU) admission was more frequent among exposed infants [28.4% vs. 11.9%; relative risk (RR): 2.38, 95% confidence interval (CI): 1.25-4.54; p = 0.007]. In exposed neonates, hyperbilirubinemia requiring phototherapy occurred more frequently (38.8% vs. 22.2%; RR: 1.75, 95% CI: 1.08-2.85; p = 0.017), and the onset of jaundice occurred earlier [median (interquartile range) 3 (2-3) vs. 5.5 (3-8) days; p = 0.006]. Direct Coombs testing (performed in a clinically selected subset) showed similar overall positivity rates, but high-grade positivity (≥2+) occurred exclusively among exposed infants (p = 0.004). In trimester-specific analyses, second-trimester maternal infection was associated with a higher rate of neonatal endotracheal intubation than with first- or third-trimester exposure (10.0% vs. 0%; p = 0.034). No group differences were observed in early postnatal complications or rehospitalizations at one month. CONCLUSION: Resolved maternal SARS-CoV-2 infection during pregnancy was not associated with major adverse neonatal outcomes, but it was linked to more frequent NICU admissions, earlier onset of clinical jaundice, a higher incidence of hyperbilirubinemia requiring treatment, and distinct patterns of severity on the direct Coombs test, potentially consistent with altered immune or hematologic processes. A trimester-specific association with endotracheal intubation was observed and should be interpreted cautiously.
Objective: This study aimed to characterize FMR1 CGG repeat length, AGG interruption number and patterns, and uninterrupted CGG tract architecture in Turkish and Syrian individuals referred for FMR1-associated phenotypes and evaluate their implications for repeat instability. Methods: This retrospective study analysed 513 alleles from 351 unrelated individuals (162 females, 189 males), including 476 Turkish and 37 Syrian alleles. CGG repeat length, AGG interruption count and interspersion patterns, and the length and positional distribution of uninterrupted CGG tracts were assessed. Allele classifications and family transmission data were evaluated when available. Results: Alleles with two AGG interruptions were the most prevalent configuration in both cohorts (70% in Turkish and 58% in Syrian alleles). In the Turkish cohort, 117 patterns were observed, including 56 population-specific variants; in the Syrian cohort, 23 distinct patterns were detected, of which seven were unique. The most common CGG repeat size was 30 in both cohorts. The most frequent AGG interspersion patterns were (CGG)9-AGG-(CGG)9-AGG-(CGG)10 and (CGG)9-AGG-(CGG)9-AGG-(CGG)9. Among 53 normal alleles with uninterrupted CGG tracts of >20 repeats, 94.3% were located at the 5′ end and were significantly associated with a positive family history (p = 0.004). All alleles that expanded to full mutations lacked AGG interruptions. CONCLUSION: These findings demonstrate marked variability in FMR1 CGG repeat length and AGG interruption architecture in Turkish and Syrian populations, although the small sample size of the Syrian cohort warrants cautious interpretation. The data further suggest that repeat instability is associated not only with repeat number but also with repeat structure and positional context. Incorporating AGG interruption analysis into routine FMR1 testing may improve genetic counseling and risk stratification.
Objective: This study aimed to design and validate myocardial infarction with non-obstructive coronary arteries (MINOCA), a practical bedside prognostic tool for evaluating the long-term risk profiles of patients experiencing myocardial infarction (MI) with MINOCAs. Methods: A retrospective cohort analysis was carried out at Gazi University between January 2013 and December 2018. MINOCA was diagnosed based on standard biochemical and clinical MI criteria, alongside angiographic evidence of stenosis of <50% in the epicardial arteries. We extracted baseline clinical, laboratory, and echocardiographic data from electronic registries. The primary endpoint was major adverse cardiovascular events (MACEs), defined as a composite of cardiovascular death, non-fatal MI, stroke, and hospitalization for heart failure; outcomes were tracked up to June 2025. Predictor variables were assessed via logistic regression, and the multivariable coefficients were used to assign point values for the PRO-MINOCA score. Statistical evaluations included receiver operating characteristic curves for discrimination, Kaplan-Meier survival curves, and Cox proportional hazards models for survival analysis. Results: The cohort comprised 658 subjects (mean age 59.2 ± 11.6 years; 52.4% women). During the extended follow-up, 158 individuals (24%) experienced MACE. Multivariable analysis identified several independent risk factors: age ≥65 years, hypertension, diabetes, left ventricular ejection fraction (EF) <50%, estimated glomerular filtration rate <60 mL/min/1.73 m², elevated levels of C-reactive protein, troponin, and N-terminal pro-brain natriuretic peptide (NT-proBNP), incident atrial fibrillation, and a history of peripheral arterial disease, MI, or prior stroke. The formulated PRO-MINOCA scale (ranging from 0 to 12 points; higher scores indicate greater risk) allocated 2 points each to reduced EF and elevated NT-proBNP and 1 point to the other parameters. The score demonstrated strong discriminative capacity [area under the curve: 0.781; 95% confidence interval (CI): 0.745–0.816; p < 0.001]. A threshold of ≥7 provided 74% sensitivity and 70% specificity. Individuals scoring ≥7 exhibited a profoundly reduced event-free survival rate (log-rank χ²: 61.2; p < 0.001) and a more than twofold increase in MACE risk (hazard ratio: 2.67; 95% CI: 2.06-3.44). CONCLUSION: The PRO-MINOCA score serves as a highly practical, purely clinical instrument that effectively identifies MINOCA patients who are at elevated long-term risk based on baseline diagnostic data. This tool can facilitate early, risk-adjusted management, particularly in environments lacking advanced cardiovascular imaging. Prospective and external validation studies are recommended.
Objective: To assess the short-term real-world effects of the fixed-ratio combination of insulin glargine and lixisenatide (iGlarLixi) on glycemic control, body weight, insulin requirements, and the Fibrosis-4 (FIB-4) score in adults with type 2 diabetes mellitus (T2DM). Methods: This retrospective study screened 122 adults initiated on iGlarLixi between January 1 and April 1, 2025. After excluding 40 patients who were receiving additional antidiabetic therapy and 12 who discontinued treatment due to intolerance or loss to follow-up, 70 patients were included in the final analysis. Body weight, body mass index, HbA1c, daily insulin dose, and FIB-4 were recorded at baseline and at 3 months. Paired t-tests or Wilcoxon signed-rank tests were used for continuous variables, and chi-square or Fisher’s exact tests were used for categorical outcomes. Results: Median age was 57 years, and 85.7% were female. Median baseline HbA1c was 9.05%, and the median FIB-4 was 0.91. At 3 months, weight decreased from 106.5 to 104 kg (p < 0.001), HbA1c decreased from 9.05% to 8.4% (p < 0.001), and insulin dose decreased from 27 to 24 U/day (p < 0.001). FIB-4 decreased modestly but significantly, from 0.91 to 0.85 (p = 0.03). In patients who added iGlarLixi to oral therapy, weight, HbA1c, and FIB-4 improved significantly (all p < 0.03). Among those switching from basal insulin to iGlarLixi, HbA1c and insulin dose decreased (both p < 0.001); weight change was minimal; and FIB-4 was unchanged (p = 0.308). Gastrointestinal adverse events occurred in 10% of cases; they were mild to moderate, and did not lead to discontinuation. CONCLUSION: iGlarLixi improved glycemic control, reduced insulin requirements, and promoted weight loss in adults with poorly controlled T2DM. When added to oral antidiabetic therapy, iGlarLixi was also associated with a modest but significant reduction in FIB-4, suggesting potential benefits for the liver.
Objective: Transcranial magnetic stimulation (TMS) is a non-invasive modulation technique. While TMS is used in many fields among adult patients, its use in child and adolescent mental health is limited. This study aims to evaluate levels of knowledge, clinical experiences, and attitudes of child and adolescent psychiatrists regarding TMS and to identify potential barriers and facilitators to the application of TMS. Methods: The study included 115 child and adolescent psychiatrists actively working in various institutions across Türkiye. Data were collected via a structured online questionnaire that inquired about participants’ demographic characteristics and their knowledge levels, experiences, perceptions of efficacy and safety, and training regarding TMS protocols. Results: While 68.7% of participants reported having a “low” general knowledge about TMS, 96.5% had received no formal training in this area. Although the indication for major depressive disorder was known to 93.9% of participants, only 8.7% of physicians had experience with TMS in the pediatric patient group. The biggest barriers to clinical practice were reported to be problems accessing equipment and a lack of information or training. The successful clinical case studies and increased training opportunities emerged as the most important facilitating factors. CONCLUSION: Although professionals in child and adolescent psychiatry have a positive view of TMS therapy and show strong interest in learning about it, there are deficiencies in training and experience. To ensure the safe and evidence-based use of TMS, it is implement structured TMS training and to increase its accessibility in hospitals.
Objective: This study aimed to investigate the psychological impact of sexual abuse on adolescents by examining differences in depression, anxiety, stress, and post-traumatic stress between those with and without a history of sexual abuse. A further objective was to evaluate the role of psychological resilience, both as a differentiating factor between the groups and as a predictor of mental health outcomes within the abused group. Methods: The study included 114 adolescents (aged 12–18 years), divided into a case group of 56 with a history of sexual abuse and a control group of 58 with no such history. Participants completed the -21, the Children’s Revised Impact of Event Scale, and the Child and Youth Resilience Measure-12. Data were analyzed using multivariate analysis of covariance to compare the groups and hierarchical multiple regression to assess the predictive role of resilience, controlling for age and gender. Results: The case group reported significantly higher levels of depression [F(1, 109) = 13.04, p < 0.001], anxiety [F(1, 109] = 10.31, p = 0.002), stress [F(1, 109) = 6.40, p = 0.013], and post-traumatic stress [F(1, 109) = 18.62, p < 0.001], as well as lower levels of psychological resilience [F(1, 109) = 14.32, p < 0.001], compared to the control group. Within the case group, psychological resilience was a significant negative predictor of depression (β = -0.35, p = 0.011), stress (β = -0.30, p = 0.026), and post-traumatic stress (β = -0.44, p = 0.001), but not anxiety (β = −0.06, p = 0.67). CONCLUSION: Adolescents who have experienced sexual abuse exhibit significant psychopathological symptoms and lower resilience. Psychological resilience appears to be a crucial protective factor, mitigating the severity of depression, stress, and post-traumatic stress. These findings underscore the importance of interventions aimed at fostering resilience in this vulnerable population.
The rising incidence of multidrug-resistant and extensively drug-resistant tuberculosis and the persistent syndemic interaction between Mycobacterium tuberculosis (Mtb) and human immunodeficiency virus have substantially intensified the global tuberculosis burden. These challenges have renewed scientific interest in understanding the immunological mechanisms that regulate host resistance, as well as the sophisticated virulence strategies employed by Mtb. Tuberculosis infection is typically initiated through inhalation of aerosolized bacilli, which are first encountered by alveolar macrophages within the pulmonary microenvironment. Acting as frontline immunological sentinels, these cells recognize conserved microbial patterns through diverse pattern-recognition receptors—including Toll-like receptors, C-type lectin receptors, dendritic cell-specific intercellular adhesion molecule-3-grabbing non-integrin, and nucleotide-binding oligomerization domain-like receptors—thereby activating intracellular antimicrobial and inflammatory signaling pathways. Although tuberculosis immunology has been extensively investigated, earlier reviews have largely focused on conventional immune pathways, providing comparatively limited attention to the immunotherapeutic potential of Mtb–expanded gamma delta (γδ) T-cells. A comprehensive synthesis addressing their expansion mechanisms, immunomodulatory functions, and translational significance in tuberculosis immunotherapy remains insufficiently explored. Consequently, a focused evaluation of the emerging role of γδ T-cells in host defense against tuberculosis is warranted. This review provides an integrated overview of the immunological functions and therapeutic relevance of γδ T-cells in tuberculosis. It discusses the role of γδ T-cells during Mtb infection, emphasizing their early antimicrobial responses and their contribution to innate-like immunity. The review further examines the interactions between γδ T-cells and dendritiC-cells, highlighting their cooperative role in antigen presentation and immune modulation. The mechanisms underlying γδ T-cell activation, interactions, and maturation during Mtb infection are addressed. Finally, emerging γδ T-cell–based immunotherapeutic strategies are being explored as potential host-directed approaches to complement conventional tuberculosis treatment. By consolidating recent advances in γδ T-cell biology and in understanding their role in tuberculosis immunity, this review addresses existing gaps in the literature and underscores their potential as targets for innovative therapeutic interventions against increasingly drug-resistant tuberculosis.
Objective: Risky social media use is related to fear of missing out (FoMO) and psychological distress, but the role of specific use motivations remains less clear. This study compares FoMO, psychological distress, and motivations for social media use between individuals with risky social media use and those without. Methods: This cross-sectional online study included 349 adult social media users. Participants completed the Bergen Social Media Addiction Scale (BSMAS), FoMO, Depression Anxiety Stress Scale-21, and Social Media Use Motivations Scale. Risky social media use was defined as a BSMAS score of ≥19. Group comparisons and correlation analyses were conducted. Results: Participants with risky social media use had higher FoMO, depression, anxiety, and stress scores, and higher scores on most motivation measures. Information-seeking motivation did not differ between groups and was not correlated with BSMAS scores. CONCLUSION: Risky social media use was more closely related to FoMO, psychological distress, and social-emotional motives than to information seeking.
Objective: The aim of this study was to evaluate the effects of polycystic ovary syndrome (PCOS) and accompanying obesity on various metabolic and biochemical parameters, particularly body composition, insulin resistance (IR), lipid profile, and inflammatory markers. Methods: The aim of this study was to evaluate the effects of polycystic ovary syndrome (PCOS) and accompanying obesity on various metabolic and biochemical parameters, particularly body composition, insulin resistance (IR), lipid profile, and inflammatory markers. A total of 120 women aged 18–40 years were included in the study: 40 obese patients with PCOS, 40 normal-weight (non-obese) patients with PCOS, and 40 healthy controls. The diagnosis of PCOS was established according to the Rotterdam criteria. Participants were classified based on body mass index (BMI) as obese (BMI ≥30 kg/m2) or non-obese (BMI <25 kg/m2). Body composition was assessed using bioelectrical impedance analysis. Serum fasting glucose, insulin, glycated hemoglobin (HbA1c), lipid profile, C-reactive protein (CRP), alanine aminotransferase, aspartate aminotransferase, anti-Müllerian hormone (AMH), luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol, and progesterone were analyzed. IR was calculated using the homeostatic model assessment of IR (HOMA-IR) method. Statistical comparisons between groups were performed using the Kruskal–Wallis test followed by Dunn’s post-hoc analyses. Results: Body weight, BMI, total fat mass, and body fat percentage were significantly higher in the obese PCOS group than in the other groups, whereas body water percentage and high-density lipoprotein (HDL) cholesterol levels were significantly lower (p < 0.001). Fasting insulin levels and HOMA-IR were significantly higher in the obese PCOS group than in both the control group and the non-obese PCOS group (p < 0.001). Additionally, HbA1c levels were higher in the obese PCOS group compared with both the control group (p < 0.001) and the non-obese PCOS group (p < 0.01). Similarly, triglyceride (TG), CRP, and ALT levels were higher in the obese PCOS group than in the other groups. AMH levels were higher in the non-obese PCOS group than in the control group. In contrast, no statistically significant differences were found among the groups in LH levels, FSH levels, the LH/FSH ratio, or progesterone levels. Correlation analyses showed that BMI and fat mass were positively associated with indicators of IR and with levels of TG, CRP, and ALT, and negatively associated with HDL cholesterol and body water percentage. Conclusion: The severity of metabolic impairment in PCOS is closely associated with obesity and increased fat mass. Obesity is one of the main determinants of IR, dyslipidemia, and inflammation. Therefore, improving body composition is of great importance in the management of PCOS to reduce metabolic risk.
Objective: We aimed to describe the imaging characteristics and clinicopathologic features of pancreatic masses in pediatric and young adult patients managed at a single tertiary referral center. Methods: This retrospective study included 19 patients (aged 4–24 years) with a pancreatic mass evaluated between 2012 and 2025. Cross-sectional imaging included computed tomography (n = 12), magnetic resonance imaging (MRI, n = 16), or both (n = 10). Imaging findings, pathologic results, and surgical outcomes were analyzed descriptively. Results: Solid pseudopapillary neoplasm (SPN) was the most common diagnosis (n = 12, 63.2%), predominantly affecting female patients (10/12, 83.3%), with a median age of 14 years (range 12–17). A well-defined capsule was present in all 12 SPN cases (100%), and internal hemorrhage was present in 58.3%. Two of eleven MRI-evaluated SPN patients demonstrated an atypical, predominantly cystic pattern with absent T1 hyperintensity, no diffusion restriction, and no internal enhancement; both were preoperatively misinterpreted as pseudocysts. Main pancreatic duct dilatation was absent in all SPN cases, regardless of lesion size or location. Surgical resection was performed in 10 of 12 SPN patients (83.3%); lymphovascular invasion was absent in all confirmed cases. Rare entities included pancreatoblastoma (n = 1), diffuse large B-cell lymphoma with pancreatic involvement (n = 1), undifferentiated/anaplastic carcinoma (n = 1; the only case with nodal metastasis in the cohort), neuroendocrine tumor grade 1 (n = 1), focal nesidioblastosis (n = 1), serous cystadenoma (n = 1), and von Hippel-Lindau-associated pancreatic cysts (n = 1). CONCLUSION: SPN accounts for approximately two-thirds of pancreatic masses in pediatric and young adult patients and displays characteristic imaging features that support a confident preoperative diagnosis. An atypical cystic SPN pattern mimicking a pseudocyst on MRI represents an underrecognized diagnostic pitfall. Rare entities have distinct , though sometimes overlapping, imaging appearances, and awareness of the full diagnostic spectrum is important for clinical management in this age group.
Objective: Large language models (LLMs) are increasingly used by the public to obtain medical and genetic information. Given the genetic complexity and public health relevance of spinal muscular atrophy (SMA), this study aimed to evaluate the quality, readability, and actionability of LLM-generated responses to SMA-related frequently asked questions (FAQs). Methods: Fifteen SMA-related FAQs were identified in Turkish using Google's "People Also Ask" feature and categorized into disease definition, genetic screening, and genetic diagnosis and treatment. Each question was submitted to the free versions of ChatGPT, Gemini, and DeepSeek. Responses were evaluated using the modified DISCERN instrument and a 5-point Likert scale for information quality; the Flesch-Kincaid reading ease and grade level for readability; and the Patient Education Materials Assessment Tool (PEMAT) for understandability and actionability. Results: Median DISCERN scores were 3.00 across all LLMs, indicating moderate information quality, and there was no significant difference among models (p = 0.069). Readability differed significantly, with ChatGPT producing responses at a lower Flesch-Kincaid grade level than that of Gemini and DeepSeek (p = 0.001). PEMAT understandability and actionability scores varied by question category, with significant differences observed for questions on disease definition and genetic screening (p < 0.05). Conclusion: LLMs generate SMA-related information with moderate quality and understandability; however, variability in readability, actionability, and topic-specific performance limits their suitability for standalone use in genetic counseling. While these tools may serve as supplementary educational resources, they should not replace clinician-led genetic counseling, particularly in contexts requiring individualized risk assessment and decision-making.
Objective: Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterised by increased intestinal iron absorption and progressive systemic iron overload. Although the C282Y variant is the predominant cause of HH in Northern European populations, the distribution of HFE variants varies geographically, and data from different regions of T & uuml;rkiye remain limited. This study aimed to evaluate the molecular spectrum of HFE gene variants and their biochemical correlates in patients investigated for HH in Ordu province, located in the Black Sea region of T & uuml;rkiye. Methods: A retrospective analysis was conducted of 100 patients who underwent HFE gene sequencing between January 2024 and October 2025. Demographic characteristics, hemoglobin, serum ferritin, serum iron, transferrin saturation (TS), and HFE genotypes were obtained from medical records. PCR-based amplification followed by next-generation sequencing on the Illumina MiSeq platform was performed. Variants were classified using international databases, including ClinVar, Franklin, VarSome, HGMD Public (R), gnomAD, and dbSNP. Comparisons between variant carriers and non-carriers were analysed using the Mann-Whitney U and chi-square tests. Results: Amongthe 1000 patients (53 males, 47females; mean age 47.2 +/- 17.1 years), 64 (64.0%) exhibited a wild-type HFE genotype, while 36 (36.0%) carried at least one variant. The c.187C>G (H63D) variant was the most common, with 30 heterozygotes and 3 homozygotes, followed by one case each of C282Y homozygosity, c.76 + 2 dup heterozygosity, and H63D + c.76+2 dup compound heterozygosity. Ferritin, serum iron, and hemoglobin levels did not differ significantly between variant carriers and non-carriers (p = 0.869, 0.204, and 0.674, respectively). However, elevated TS (> 45%) was observed significantly more often in variant carriers than in wild-type individuals (41.7% vs. 20.3%, p = 0.040), indicating an approximately 2.8-fold higher likelihood of high TS among carriers. The proportion of participants with ferritin > 400 & micro;g/L did not differ significantly between groups. The highest ferritin level (6104 & micro;g/L) was observed in a heterozygous H63D female patient with severe anemia, while the highest TS (99%) was detected in a patient without any detectable variants. Conclusion: In this Black Sea cohort, H63D was the predominant HFE variant, whereas C282Y was rare, consistent with regional genetic patterns in T & uuml;rkiye. Although HFE variants were not associated with significant differences in ferritin, their strong association with elevated TS suggests a measurable impact on iron handling. These findings highlight the importance of TS in the diagnostic evaluation of HH in regions where C282Y-related HH is uncommon. Larger multicenter studies incorporating imaging-based iron quantification are needed to better define genotype-phenotype relationships in the Turkish population.
Thoracic disc herniation (TDH) is a rare clinical entity, accounting for less than 1% of all intervertebral disc herniations. Although it most commonly presents with axial back pain, myelopathy, or radiculopathy, TDH can occasionally manifest with atypical and misleading symptoms such as visceral or abdominal pain, significantly complicating diagnosis and potentially delaying appropriate neurosurgical intervention. We report the case of a 48-year-old woman who presented with chronic abdominal and back pain, accompanied by intermittent numbness in the lower extremities. Despite extensive prior investigations, no definitive diagnosis was established. Thoracic spine magnetic resonance imaging demonstrated a right paracentral disc herniation at the T9-10 level, causing compression of the spinal cord and adjacent nerve roots.The patient underwent a righttransfacet discectomy, which resulted in complete resolution of symptoms without postoperative complications. This case highlights the diagnostic challenge of TDH presenting with atypical abdominal symptoms. Spinal imaging should be considered in patients with unexplained visceral pain, especially when neurological findings are present. Early detection can prevent unnecessary interventions and allow timely surgical treatment.
Gastric schwannomas (GSs) are rare, benign mesenchymal tumors originating from Schwann cells of the nerve sheath, accounting for approximately 0.2% of all gastric tumors. These tumors pose diagnostic challenges due to their resemblance to gastrointestinal stromal tumors (GISTs) and other submucosal neoplasms. We presentthe case of a 47-year-old male with a history of GI bleeding who was initially diagnosed with suspected GIST based on an enhanced abdominal computed tomography scan. The scan revealed a 7.4 & times; 5.6-cm exophytic mass with homogeneous enhancement in thegastric antrum. Laparoscopic distal gastrectomy with Roux-en-Y gastrojejunostomy was performed, revealing a tumor with purple-red discoloration, serosal invasion, omental involvement, and suspected metastatic infra-pyloric nodules. Histopathological examination confirmed a GS, characterized by spindle-shaped cells with Antoni A and B patterns, Verocay bodies, and strong S-100 protein immunoreactivity, while negative for CD117, DOG-1, CD34, SMA, and desmin. The patient recovered uneventfully and was discharged on postoperative day 6. This case underscores the diagnostic complexity of GSs, emphasizing the critical role histopathological and immunohistochemical analysis in distinguishing them from other mesenchymal tumors. Minimally invasive surgical resection offers both diagnostic confirmation and effective treatment, with favorable oncologic and functional outcomes.
Obesity, which is a global problem regarded as a complex disorder, is influenced by environmental, genetic, and epigenetic factors. Genetic discoveries, epigenetic alterations, nutritional roles, hormonal effects, inflammation, and the precise problem of middle-aged abdominal fat development are prominent factors. This article provides a summary of current theories related to the biology of obesity. The distinct role of neuroestrogens in the development of obesity has also been described. This review also explores how maternal obesity affects the development of the fetal liver and subsequent childhood obesity, emphasizing the long-term metabolic effects of maternal overnutrition. The article also underlines the latest data concerning adolescent obesity and its influence on the subsequent development of obesity in offspring and the impact of paternal obesity, not only maternal obesity, on offspring. New prospects for clinical study and medication development are illustrated by the newly identified role of neuroestrogens in appetite regulation and energy balance. In addition, creating efficient management and prevention measures for obesity requires an understanding of the mechanisms that cause increases in abdominal fat in middle-aged individuals, such as hormonal changes, metabolic alterations, and lifestyle factors. A conceptual shift from late-stage obesity care to early, preventive, and personalized interventions is supported by the clinical application of mechanistic insights from developmental biology, genetics, and epigenetics.
