Background: A two-year-old female patient was referred to our clinic due to speech and gait disturbances, strabismus, vacant staring, truncal hypotonia, and spasticity in the extremities. The patient had a history of a complicated delivery resulting in perinatal asphyxia. Electrocardiogram (ECG), echocardiogram (ECHO) and abdominal ultrasound findings reported no abnormalities. Previously performed spinal muscular atrophy (SMA) test, chromosomal microarray and karyotype analyses yielded normal results. On clinical examination, facial dysmorphic features included: prominently low-set ears, strabismus, downslanting palpebral fissures, micrognathia, and tapering fingers. Methods: To elucidate the patient’s phenotype, trio exome sequencing was performed using DNA samples of the patient and her parents. Analysis revealed a homozygous variant in the AMPD2 gene (NM_001368809.2) c.353 + 11 C > T, with both parents identified as heterozygous carriers. The phenotype was found to be partially consistent with pontocerebellar hypoplasia type 9 (PCH9), a condition associated with the AMPD2 gene. The variant was suspected to create a novel splicing site; therefore, blood samples were collected from the patient and her parents for RNA extraction. Subsequent cDNA analyses via gel electrophoresis and Sanger sequencing confirmed the alternative splicing event. Quantitative PCR study was applied to evaluate expression. Conclusions: This study designates the early-onset phenotype of PCH9 in a patient carrying a splice-altering variant in AMPD2. It also highlights the feasibility of functional studies in evaluating intronic variants of uncertain significance. Functional validation of such variants, which are often challenging to classify, can provide critical insights for clinical decision-making for the patient and further reproductive planning for the family.
To compare mitral and tricuspid annular plane systolic excursions (MAPSE and TAPSE, respectively) by using M-mode ultrasonography in fetuses of patients with diet-controlled GDM, insulin-treated GDM and a control group. This prospective case–control study enrolled 80 women with Gestational diabetes mellitus (GDM) and 95 healthy pregnant controls. Fetal MAPSE and TAPSE were obtained under standardized conditions by experienced operators using M-mode ultrasonography. Fetal mitral annular plane systolic excursion (MAPSE) and tricuspid annular plane systolic excursion (TAPSE) values were found to be significantly lower in the GDM group compared with the control group (p < 0.001). In analyses evaluating GDM cases within themselves, fetal MAPSE and TAPSE values were found to be more significantly reduced in the insulin-treated GDM group compared to the diet-controlled GDM group. Fetal MAPSE and TAPSE values, measured by M-mode ultrasonography, were found to be significantly lower in the GDM group compared to the control group. The more pronounced decrease in these values, particularly in insulin-treated GDM cases, suggests that M-mode-derived MAPSE and TAPSE may serve as practical adjunctive markers of altered fetal cardiac function in GDM; however, their routine clinical use requires further validation with reproducibility analyses and postnatal outcome data.
BACKGROUND:FINDRISC is a non-invasive, easy-to-use, and free screening tool developed to estimate the 10-year risk of developing type 2 diabetes mellitus (T2DM). OBJECTIVE:This study aimed to investigate whether FINDRISC can also predict liver fibrosis risk, as measured by the fibrosis-4 index (FIB-4) in individuals without a diagnosis of T2DM. METHODS:This retrospective cross-sectional study included 1329 adults aged ≥18 years without prior T2DM, based on records from a Family Health Center in Turkey. The FINDRISC results used in T2DM screening were analyzed retrospectively from patient records. FINDRISC scores were calculated from questionnaire results, and FIB-4 was derived from laboratory data (age, alanine aminotransferase, aspartate aminotransferase, platelet count). Chi-square, correlation, and regression analyses were performed, adjusting for gender, smoking, alcohol use, physical activity, and marital status. RESULTS:Mean FINDRISC scores and FIB-4 were 11.88 ± 6.22 and 1.01 ± 0.80, respectively. Higher FINDRISC categories were associated with older age, female sex, non-smoking, physical inactivity, and obesity. A moderate positive correlation was observed between FINDRISC and FIB-4 (rho = 0.427, P < 0.001). In multivariable regression, FINDRISC emerged as an independent predictor of FIB-4 (β = 0.250, P < 0.001), increasing model variance explained from 6.4% to 12.3%. CONCLUSION:FINDRISC, beyond its established role in T2DM risk stratification, may serve as a dual, non-invasive, and free screening tool to identify individuals at increased risk of liver fibrosis. Thanks to its simplicity and self-administered nature, individuals can easily complete the questionnaire at home, enabling early diagnosis of both T2DM and liver fibrosis risk.
BACKGROUND:Artificial intelligence (AI) tools such as large language models are increasingly used in clinical decision support, yet their reliability in vascular medicine remains uncertain. This study evaluated the accuracy and guideline concordance of ChatGPT-5 in vascular disease management. METHODS:Seventy open-ended clinical questions were derived from five major national and international vascular guidelines. Responses generated by ChatGPT-5 were independently assessed by five cardiovascular surgeons using a five-point Likert scale. Inter-rater agreement was analyzed using the free-marginal multirater kappa statistic. RESULTS:ChatGPT-5 achieved a mean score of 4.74±0.27, showing strong consistency with evidence-based recommendations. Forty questions (57%) received perfect agreement, and inter-rater reliability was moderate (κ=0.50; 95% CI: 0.37-0.64). CONCLUSIONS:ChatGPT-5 produced guideline-aligned and clinically sound responses in vascular disease scenarios. While promising as a supportive clinical tool, broader datasets and real-world validations are needed to ensure clinical translatability.
BACKGROUND:To evaluate, in light of existing population-based studies, whether endovascular abdominal aortic aneurysm repair (EVAR) increases the long-term incidence of abdominal cancer compared with open surgical repair. METHODS:A literature search was conducted using PubMed, Scopus, and Web of Science. Studies comparing EVAR and open technique were included. No date limitation was applied. The findings of the studies were evaluated using a random-effects or fixed-effects model depending on the presence of heterogeneity (I2 > 25%). RESULTS:A total of 9,734 articles were found after a database search. After reviewing the article titles and abstracts, 2 articles with 57,597 patients that met the inclusion criteria were included in the meta-analysis. Although our analysis showed that open surgery appeared to be associated with a lower incidence of abdominal cancer compared to EVAR, this result was not statistically significant (odds ratio: 0.61; 95% confidence interval 0.12-3.23; P = 0.56). CONCLUSION:A meta-analytic review of the available data revealed no statistically significant difference in abdominal cancer incidence between EVAR and open surgical repair. Although the hazard ratio for developing abdominal cancer after EVAR appeared modestly increased in individual cohort analyses, the absolute incidence of abdominal cancer remained low in both treatment groups. Given significant heterogeneity and the inclusion of only 2 retrospective studies in the analysis, these findings should be considered hypothesis-generating rather than transformative for clinical practice.
