Citations

Introduction: Endometrial carcinoma (EC) is the most prevalent gynecological cancer. It is characterized by a clinical, pathological, and prognostic trajectory that has become inextricably linked to the disease’s molecular profile. Therefore, it is imperative to examine its relevance across all facets associated with the disease. Methods: This is a single-center retrospective study to assess tumor molecular profile concordance between EC diagnosis and recurrence. All patients who underwent hysterectomy for EC between 2016 and 2020 were included. Results: In total, 221 cases of EC were collected. In total, 18 recurrences were found. In two cases, there was a molecular classification (MC) change: an MMR-deficient endometrioid EC shifted to a “multiple classifier” subtype. The second, an NSMP subtype, at second recurrence revealed a switched MC to an aberrant mutated p53 profile. This discordance rate was non-significant in our cohort. However, considering the lack of evidence, it opens new insights to be revealed. Conclusions: This is the first study focusing on the discordance rate of MCs in EC relapses compared to the initial diagnosis. Future large-scale retrospective and prospective multicenter studies are essential for exploring this aspect.

Cataracts are the leading cause of blindness worldwide. Obesity, a key component of metabolic syndrome (MetS), may represent a modifiable risk factor for cataracts. However, the evidence regarding the association between MetS or its components and cataracts remains controversial. Therefore, our meta-analysis aims to clarify the relationship between MetS or its components and cataracts. A search was conducted until February 2024 via the MEDLINE, EMBASE, and Cochrane databases. The primary endpoint included the association between MetS or its components, including body mass index (BMI), diabetes mellitus (DM), hypertension (HT), and dyslipidemia (DLP), and cataracts. Secondary endpoints included the association between levels of blood pressure, blood sugar, and lipid profiles and cataracts. A total of 27 studies were included with a total of 1,010,014 patients (134,498 with cataracts and 875,516 without cataracts). Of these, there were 2 prospective cohort studies, 6 case–control studies, and 19 cross-sectional studies. The prevalence of cataracts was 13.3%. MetS was significantly associated with cataracts with an odds ratio (OR) of 1.60 (95% confidence interval [CI]: 1.44–1.77, I 2 = 93%). Among MetS components, high BMI and being diagnosed with DM, HT, and DLP were associated with cataracts with ORs of 1.45 (95% CI: 1.33–1.58, I 2 = 80%), 1.77 (95% CI: 1.69–1.85, I 2 = 51%), 1.23 (95% CI: 1.19–1.28, I 2 = 62%), and 1.38 (95% CI: 1.30–1.46, I 2 = 0%). Among the metabolic parameters, high total cholesterol, high triglycerides, low high-density lipoprotein cholesterol, and high low-density lipoprotein cholesterol were associated with cataracts with ORs of 1.25 (95% CI: 1.04–1.49, I 2 = 48%), 1.05 (95% CI: 1.04–1.06, I 2 = 68%), 1.07 (95% CI: 1.01–1.13, I 2 = 0%), and 1.30 (95% CI: 1.10–1.53, I 2 = 71%), respectively. MetS, obesity, DM, HT, and DLP are associated with cataracts. Prevention or treatment of MetS or its components likely represent a modifiable risk factor in cataract development.

BACKGROUND: Spontaneous coronary artery dissection (SCAD) is an increasingly recognized cause of acute coronary syndrome, predominantly affecting women. Psychological distress is common pre- and post-SCAD, yet sex-specific patterns remain understudied. This cross-sectional study aimed to examine sex differences in the psychological distress of patients with SCAD. METHODS: Adult patients diagnosed with SCAD within the past 3 years, confirmed by coronary angiography, were recruited from 6 Canadian hospitals between April 2022 and January 2025. Participants completed questionnaires assessing sociodemographics and validated measures of psychological distress: Patient Health Questionnaire-9 for depression, Generalized Anxiety Disorder-7 for generalized anxiety, Cardiac Anxiety Questionnaire for cardiac-related anxiety, and PTSD Checklist-5 for posttraumatic stress symptoms. Sex differences were analyzed using t tests for continuous variables and χ 2 tests for categorical variables. Multivariable linear regression models assessed the association between sex and psychological distress, adjusting for age, pre-SCAD mental health diagnosis, and employment status. RESULTS: Among 326 patients (92.9% women; mean age=53.3±11.1 years), women reported higher rates of preexisting mental health conditions (29.2% versus 8.7%; P =0.035). Post-SCAD women reported higher mean scores than men on the Patient-Health-Questionnaire-9, Cardiac-Anxiety-Questionnaire, and PTSD Checklist-5 (all P <0.05). Female sex was associated with greater depressive (B=2.94; P =0.010), cardiac anxiety (B=7.09; P =0.008), and posttraumatic stress symptoms (B=5.94; P =0.048) after adjustment. Clinically significant symptoms were more common in women versus men: 25.1% versus 0% (depression), 21.5% versus 4.4% (anxiety), 54.8% versus 26.1% (cardiac anxiety), and 15.5% versus 0% (posttraumatic stress). CONCLUSIONS: Both women and men experience clinically significant cardiac anxiety following SCAD, but women report a greater psychological burden, including more preexisting mental health conditions and twice the distress after SCAD. These results underscore the importance of routine psychological screening and timely intervention to support mental health and recovery outcomes, particularly among women.

Abstract As artificial intelligence (AI) Large Language Models (LLM) like ChatGPT become more common in healthcare, patients increasingly use them to find medical information. While ChatGPT may support health literacy, its readability and accuracy compared to established resources remain unclear. The purpose of this study is to evaluate ChatGPT-4 responses on femoroacetabular impingement (FAI) and its surgical management compared to AAOS OrthoInfo content. We hypothesize that ChatGPT may deliver medically accurate information, but its readability may fall short when compared to OrthoInfo. Nine questions based on the OrthoInfo FAI page were submitted to ChatGPT-4, with and without a readability prompt. Topics included anatomy, pathology, cause, symptoms, workup, imaging, treatment, role of hip arthroscopy, and outcomes. Readability was assessed using validated indices. Accuracy was independently rated using a 4-point scale. Statistical comparisons were made using t-tests and ANOVA (P &lt; 0.01 threshold). OrthoInfo content had a mean reading grade level of 8.0 and a Flesch Reading Ease score of 60.7. Unprompted ChatGPT responses were significantly less readable (grade level 16.2; Flesch score 21.7; P &lt; 0.001). Prompting for readability improved ChatGPT outputs (grade level 10.6; Flesch score 58.2), making them comparable to OrthoInfo (P &lt; 0.09). Accuracy was high across all sources, though OrthoInfo's response on FAI causes scored slightly lower (3.5 versus 4.0; P &lt; 0.46). ChatGPT provides accurate information on FAI. However, without prompting, its complexity may hinder patient understanding. Prompting for readability enables ChatGPT to match established resources like OrthoInfo. Tailored prompting is key to using LLM effectively in patient education and promoting health literacy.

Abstract Aims Coronary angiography might contain clinically relevant information, beyond its traditional role in delineating coronary artery disease. We sought to explore the role of deep learning (DL) in detecting right ventricular dysfunction from routinely acquired cine images during coronary angiography. Methods and results 3D-convolutional neural networks (CNN) were trained to identify right ventricle (RV) dysfunction from diagnostic angiography of the right coronary artery (RCA). The model’s input was two cine angiograms from LAO and RAO projections. The model’s output was normal vs. abnormal RV function. Ground truth on RV function was obtained from the nearest transthoracic echocardiogram to the coronary angiogram. Two analyses were performed to identify (i) any RV dysfunction (≥mild) and (ii) significant RV dysfunction (≥mild–moderate). A total of 10 336 coronary angiograms from 9849 patients (mean age 66, 36% women) were included. The cohort was split into training (70%), validation (15%), and testing (15%) sets. In the testing sets, the models attained an area under the ROC curve (AUC), sensitivity, and specificity of 0.82 (95% CI: 0.80–0.84), 0.75, and 0.74, for detecting any RV dysfunction, and 0.83 (95% CI: 0.80–0.86), 0.82, and 0.70 for detecting significant (≥mild–moderate) RV dysfunction. Combining an ECG-driven AI model with the angio-driven model improved the AUC values to 0.83 and 0.87 for detecting any or advanced RV dysfunction, respectively. Conclusion A novel deep learning algorithm yielded acceptable classification accuracy in detecting RV dysfunction from routine cine angiography of the RCA. The model’s performance improved further by adding ECG to its inputs.

Abstract Background Neurofibromatosis type 1 (NF1) is a multisystem genetic condition. Up to 50% of individuals with NF1 develop plexiform neurofibromas (PN) that can cause pain and significant morbidity, impairing quality of life. As of December 2025, only a limited number of countries have an approved medical treatment for adults with NF1-PN. A systematic literature review (PROSPERO CRD42023463980) was conducted to better understand disease burden and unmet need in this population. Methods An evidence prioritization strategy identified studies reporting on NF1-PN populations with ≥50% adults from database searches conducted between 1988 and July 20, 2023. Studies published in the last 15 years were extracted. Results Of 3242 identified sources, 57 publications (53 unique studies) were included. The proportion of adults with NF1 who had PN ranged from 11.8% to 84.9% (n = 9 studies). Annual median change in untreated PN volume was −3.7% to +8.3% (n = 5 articles). Pain was the most common PN-related manifestation (32.0%–38.4% of patients; n = 12 articles). Malignant PN transformation occurred in 2.0%–4.1% of patients (n = 5 cohorts); 3 shorter-term studies reported no transformation. Surgery was performed in 69.5% of patients (n = 7 cohorts); post-operative complications occurred in 13.0%–30.0% (n = 3 articles). Analgesia was the most reported pharmacological treatment (37.9% of patients; n = 7 articles). Limited data indicated that PN monitoring and surgery cause substantial resource use. No studies reported on caregiver burden, healthcare costs, or transition from pediatric to adult care. Conclusions Adults with NF1-PN experience high disease burden. Data gaps exist for epidemiology, transition of care, caregiver burden, healthcare cost, and resource use.

Abstract Background DPYD testing can identify patients at risk for severe toxicity when a standard fluoropyrimidine antineoplastic dose is prescribed. Sequencing-based methods detect rare variants, which require classification. Methods DPYD sequencing results over a 9-year period through to 2024 were analyzed. The dataset was filtered to calculate the positive test rate for different genotyping strategies, including targeted analysis of the Association for Molecular Pathology (AMP) Tier 1 and 2 recommended alleles, and as compared to sequencing. Variant classifications based on the laboratory’s clinical protocol were compared to ClinVar classifications and designations by the Clinical Pharmacogenetics Implementation Consortium (CPIC) expert panel. Results A DPYD variant was reported in 12.79% (896/7003) of those tested, with 2.53% (170/7003) of all reports including a variant of uncertain significance. Had only AMP Tier 1 or both Tier 1 and 2 been tested, 9.30% and 9.44% of patients would have received a positive report, respectively. Among the 281 unique, non-Tier 1/Tier 2 variants encountered during sequencing, &gt;80% were not classified by the CPIC expert panel, while &gt;48% were not reported in ClinVar. Variant classifications by our laboratory and those in ClinVar were generally concordant with the CPIC expert panel, despite the lack of a standardized classification system. Conclusions While AMP Tier 1 genotyping would have identified most patients at risk for fluoropyrimidine toxicity, sequencing is more comprehensive, identifying 26% more reportable variants compared to targeted genotyping. A standard framework for pharmacogenomic variant classification could facilitate consistent variant classification and a transition from targeted genotyping to sequencing.

Background/Objectives: Traumatic spinal cord (SC) injury (SCI) is a debilitating neurological condition. Minimally invasive approaches to monitor in real time the functional state of the neuromotor apparatus in animal models of SCI (at rest and movement) to assess effectiveness of therapy are needed in preclinical studies. We aimed to develop such a bioethically acceptable platform for SCI studies on non-human primates (Rhesus macaques). Methods: Epidural and myographic electrode implantation (EI) (wireless and wired, connected via a head plug) was performed. After EI, motor responses caused by electrical stimulation of the SC at the level of the cervical and lumbar thickening were recorded; electromyography of the limb muscles was recorded during quadrupedal movement of the animal on a treadmill with simultaneous assessment of movements’ kinematic parameters. Five weeks after EI, three animals underwent lateral hemisection of the SC in the C4–C5 segment under the control of a surgical microscope and intraoperative recording of motor- and sensory-evoked potentials. Results: Within 30 days after SCI, during treadmill testing, a decrease in electromyographic activity of the limb muscles and the volume of angular movement in the joints on the side of the injury was detected. Electrical stimulation at the L2–S1 segments of the SC at a frequency of 30 Hz led to the appearance of a locomotor pattern in the muscles of the hind limbs and an increase in the range of motion. Conclusions: Our platform can be used for pathophysiological studies of various neuromodulation modes and as a basis for the development of control neurointerfaces.