Background/aim: Atherosclerotic heart diseases can occur at an early age in patients with ankylosing spondylitis (AS). Flow-mediated dilation (FMD) and carotid intima-media thickness (cIMT) values are reliable markers for early detection of subclinical atherosclerosis in patients with AS. We aimed to investigate the relationship between visfatin levels and indirect markers of subclinical atherosclerosis and endothelial dysfunction in patients with AS. Materials and methods: Forty-two patients diagnosed with AS and 42 age, sex, and body mass index (BMI)-matched controls were included in the study. Visfatin levels, FMD, and cIMT were measured using appropriate methods. Results: Visfatin levels of the patients were significantly higher than controls (p < 0.001). FMD values in patients with AS were significantly lower (p = 0.007) whereas cIMT were significantly higher than the controls (p = 0.003). There was a negative relationship between FMD with visfatin levels (p = 0.004), BASDAI (p = 0.010), and BASFI (p = 0.007). There was a positive relationship between cIMT with visfatin (p = 0.005), BASDAI (p < 0.001), and BASFI (p < 0.001). There was a positive relationship between visfatin with BASDAI (p < 0.001), and BASFI (p < 0.001). Conclusion: Visfatin levels are increased and associated with impaired FMD and increased cIMT in patients with AS. Increased visfatin levels may be associated with subclinical atherosclerosis in AS.

Background/aim: Human endothelial cell-specific molecule-1 (endocan) is a marker of vascular endothelial dysfunction that may be used in the evaluation of inflammatory-associated atherosclerotic lesions. Endocan may be a marker for the evaluation of atherosclerosis and disease activity in rheumatoid arthritis (RA) patients. Materials and methods: We included 39 RA patients assessed according to the American College of Rheumatology/European League Against Rheumatology 2010 diagnostic criteria and recruited 30 age- and sex-matching healthy subjects for the control group. Results: Endocan values were 14.11 +/- 3.27 for the RA patients and 12.10 +/- 2.92 for the controls. The endocan values of the patients were significantly higher than those of the control group (P = 0.009). In the correlation analysis, endocan showed a significantly positive correlation with disease activity score-28 (r = 0.386, P = 0.029) and carotid intima-media thickness (cIMT) (r = 0.419, P = 0.008). Linear regression analysis revealed that there was an independent relationship between endocan and cIMT (P = 0.029). Conclusion: Endocan can be a marker for early atherosclerosis and disease activity in RA patients.

Objective: Point-of-Care Ultrasound (POCUS) refers to the use of portable ultrasound machines to perform quick and focused ultrasound examinations at a patient's bedside or point-of-care. POCUS can be performed by all health workers with specific training to use POCUS. The aim of this study was to investigate the radiological performance and feasibility of POCUS using a handheld ultrasound device (HHUSD) in children for examining the thyroid gland. Methods: A pediatric endocrinologist performed thyroid imaging in children referred to our hospital with suspected thyroid disease using an HHUSD. The same children underwent ultrasonography (US) imaging using the same device by the first radiologist, and a second radiologist performed thyroid US using an advanced high-range ultrasound device (AHUSD) (defined as the gold-standard method) within two hours. The data obtained by the three researchers were compared with each other. Results: This study included 105 patients [68.6% girls (n=72)] with a mean age 12.8 +/- 3.6 years. When the thyroid volume was evaluated, a strong correlation was found between the measurements of the three researchers (AA vs. MG: r=0.963, AA vs. GT: r=0.969, MG vs. GT: r=0.963, p<0.001). According to the Bland-Altman analysis for total thyroid volume, AA measured 0.43 cc [95% confidence interval (CI):-0.89-0.03] smaller than MG, and 0.11 cc (95% CI:-0.30-0.52) larger than GT, whereas MG measured 0.52 cc (95% CI: 0.090.94) larger than GT. When evaluated for the presence of goiter and nodules, a near-perfect agreement was found between the results of the three researchers (AA vs. GT; kappa =0.863, MG vs. GT; kappa =0.887, p<0.001, and AA vs. GT; kappa =1.000, MG vs. GT; kappa =0.972, p<0.001, respectively). When evaluated in terms of the longest axis of nodules, a high correlation was found between the measurements of the three researchers (AA vs. MG; r=0.993, AA vs. GT; r=0.996, MG vs. GT; r=0.996, p<0.001). When evaluated in terms of the final diagnosis, the evaluations of the three researchers showed excellent agreement with each other (AA vs. GT; kappa =0.893, MG vs. GT; kappa =0.863, p<0.001, accuracy rate AA vs. GT: 93.3%; MG vs. GT: 91.4%).

Mandibuloacral dysplasia (MAD) is a rare genetic disorder characterized by distinctive skeletal abnormalities, metabolic issues, and skin changes, often linked to pathogenic variants in the LMNA gene, which encodes lamin A/C. This study investigates a specific founder mutation within a Turkish cohort and explores its impact on phenotypic expressivity. We conducted a comprehensive analysis involving genetic testing for LMNA variants in patients diagnosed with MAD. Clinical evaluations documented a wide range of phenotypic features, including facial dysmorphism, skeletal anomalies, and metabolic abnormalities. We also collected family histories to assess inheritance patterns and potential environmental influences. Our findings identified a common founder mutation in the LMNA gene among the cohort, which was present in a significant percentage of participants. Notably, phenotypic expressivity varied significantly, with some individuals exhibiting classic MAD features, while others showed atypical manifestations, such as additional endocrine disorders and variable severity of skeletal anomalies. This variability underscores the complexity of the genotype-phenotype relationship. This study highlights the significance of the founder mutation in LMNA and its diverse phenotypic outcomes in MAD. Our results contribute to the understanding of how genetic mutations can lead to a spectrum of clinical presentations, emphasizing the necessity for personalized clinical approaches in managing this condition. Further research is warranted to elucidate the underlying mechanisms of phenotypic variability and to improve diagnostic and therapeutic strategies.

Journal of Clinical Research in Pediatric Endocrinology

The aim of this study was to evaluate diagnostic accuracy and differential-diagnosis quality of large language models (LLMs) for clinically realistic, text-only pediatric neuroradiology cases. This cross-sectional diagnostic accuracy study included 100 fictional pediatric neuroradiology cases composed of a brief clinical presentation and a structured text-only CT/MRI report curated by an expert pediatric neuroradiologist and a pediatrist. For each case, a reference primary diagnosis and two acceptable alternatives were pre-specified. Seven LLM variants (ChatGPT-5.2 Instant/Auto/Thinking; Gemini 3 Pro/Thinking; Claude 4.5 Opus/Opus Thinking) and three radiologists (two general radiologists; one pediatric radiologist) each provided one primary diagnosis and two differentials. Primary outcome was top-1 accuracy (exact match or acceptable alternative). Secondary outcomes were Differential Diagnosis Score (DDxScore, 1--5) and response time. Paired accuracy differences were assessed with Cochran's Q and post-hoc McNemar tests; DDxScore and response time were compared using Friedman tests with post-hoc Wilcoxon signed-rank tests and multiplicity correction. Top-1 accuracy ranged from 44–54% among radiologists (pediatric radiologist 54%) and 48–80% among LLMs (ChatGPT-5.2 Thinking/Auto and Gemini 3 Thinking 80%; Claude 4.5 Opus Thinking 76%). Overall accuracy differed across raters (Cochran's Q = 107.86, df = 9, p < 0.001). Median DDxScores were 4.0 (IQR 2.0–4.0) for the pediatric radiologist, 3.0 (2.0–4.0) for general radiologists, and up to 5.0 (4.0–5.0) for leading thinking-mode LLMs (p < 0.001). All LLMs were faster than radiologists (p < 0.001). In text-only pediatric neuroradiology cases, several contemporary LLMs matched or exceeded radiologists in top-1 accuracy and produced high-quality differentials with substantially shorter response times. These findings support further evaluation for education and audited decision-support workflows.