Subgroup Scores Research Articles

P0498 Relationship Of Disease Activation And Treatment With Pulmonary Function Tests And Obstructive Sleep Apnea Syndrome In Ulcerative Colitis Patients

Abstract Background Ulcerative colitis (UC) is a chronic disease with relapses and remissions that may also be associated with extra-intestinal pathologies (1). Patients may develop anemia due to chronic disease or bloody diarrhea, which may cause shortness of breath and limitation in exercise capacity (2). The aim of this study was to compare UC patients with healthy subjects and to determine the relationship between the presence of the disease, activation status and treatment with pulmonary function and obstructive sleep apnea syndrome (OSAS). Methods The study included 55 UC patients admitted to the Inflammatory Bowel Diseases (IBD) outpatient clinic of Gaziantep University School of Medicine within the last year and 55 healthy controls. Disease activation and endoscopic evaluation were based on Mayo score. Pulmonary function test, lung diffusion test (DLCO), MMRC score and six-minute walk test were performed in all participants. In the Berlin Questionnaire, the patient is questioned about the frequency and severity of snoring, the frequency of diagnosed apnea and the presence of hypertension or obesity. Each category is evaluated within itself and if two or more categories are positive, the risk of OSAS is considered high according to the Berlin questionnaire. Results In the control group, the rate of patients who exceeded 80% of the expectation in the six-minute walk test was higher than UC patients (p:0.001). MMRC score was significantly higher in UC patients compared to the control group (p:0.001). According to the Berlin questionnaire, 56.4% of UC patients were at high risk for OSAS, while this rate was 30.9% in the control group (p:0.007). FEV1 value was higher in UC patients who received biological agents compared to those who did not (p:0.041). As the endoscopic mayo score increased, patients were found to be at higher risk for OSAS in the Berlin questionnaire (p:0.002). UC patients with severe disease were more likely to be at high risk for OSAS than patients with mild and moderate disease (p:0.001). Although the MMRC score was numerically higher in patients with severe disease than in patients with mild and moderate disease, it was not statistically significant (p:0.065). Conclusion Extra-intestinal manifestations such as arthritis, uveitis are more recognised in UC, but respiratory pathologies are often overlooked (3). As shown in our study, UC patients have poorer results in respiratory function and a higher risk of OSAS compared to healthy individuals, and conditions such as severe disease and high mayo score in subgroups of UC patients also adversely affect these parameters. For all these reasons, assessment of pulmonary function and OSAS risk in UC patients should be a routine part of patient management. References 1-Wangchuk P, Yeshi K, Loukas A. Ulcerative colitis: clinical biomarkers, therapeutic targets, and emerging treatments. Trends Pharmacol Sci. 2024;45(10):892-903. doi: 10.1016/j.tips.2024.08.003. 2-Kucharzik T, Koletzko S, Kannengiesser K, Dignass A. Ulcerative Colitis-Diagnostic and Therapeutic Algorithms. Dtsch Arztebl Int. 2020;117(33-34):564-574. doi: 10.3238/arztebl.2020.0564. 3-Hao G, Zhu B, Li Y, Wang P, Li L, Hou L.Sleep quality and disease activity in patients with inflammatory bowel disease: a systematic review and meta-analysis.Sleep Med. 2020;75:301-308. doi: 10.1016/j.sleep.2020.08.032.

Construction of the bromodomain-containing protein-associated prognostic model in triple-negative breast cancer

BackgroundBromodomain-containing protein (BRD) play a pivotal role in the development and progression of malignant tumours. This study aims to identify prognostic genes linked to BRD-related genes (BRDRGs) in patients with triple-negative breast cancer (TNBC) and to construct a novel prognostic model.MethodsData from TCGA-TNBC, GSE135565, and GSE161529 were retrieved from public databases. GSE161529 was used to identify key cell types. The BRDRGs score in TCGA-TNBC was calculated using single-sample Gene Set Enrichment Analysis (ssGSEA). Differential expression analysis was performed to identify differentially expressed genes (DEGs): DEGs1 in key cells, DEGs2 between tumours and controls and DEGs3 in high and low BRDRGs score subgroups in TCGA-TNBC. Differentially expressed BRDRGs (DE-BRDRGs) were determined by overlapping DEGs1, DEGs2 and DEGs3. Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis, and protein-protein interaction (PPI) network analysis were conducted to investigate active pathways and molecular interactions. Prognostic genes were selected through univariate Cox regression and least absolute shrinkage and selection operator (LASSO) regression analyses to construct a risk model and calculate risk scores. TNBC samples from TCGA-TNBC were classified into high and low-risk groups based on the median risk score. Additionally, correlations with clinical characteristics, Gene Set Enrichment Analysis (GSEA), immune analysis, and pseudotime analysis were performed.ResultsA total of 120 DE-BRDRGs were identified by overlapping 605 DEGs1 from four key cell types, 10,776 DEGs2, and 4,497 DEGs3. GO analysis revealed enriched terms such as ‘apoptotic process,’ ‘immune response,’ and ‘regulation of the cell cycle,’ while 56 KEGG pathways, including the ‘MAPK signaling pathway,’ were associated with DE-BRDRGs. A risk model comprising six prognostic genes (KRT6A, PGF, ABCA1, EDNRB, CTSD and GJA4) was constructed. A nomogram based on independent prognostic factors was also developed. Immune cell abundance was significantly higher in high-risk group. In both risk groups, TP53 exhibited the highest mutation frequency. The expression of KRT6A, ABCA1, EDNRB, and CTSD went decreased progressively in pseudotime.ConclusionA novel prognostic model for TNBC associated with BRDRGs was developed and validated, providing fresh insights into the relationship between BRD and TNBC.

NT-proBNP for Heart Failure Screening in Primary Care in an Eastern European Country: What We Know and Proposed Steps.

Epidemiological studies indicate that heart failure (HF) prevalence and associated mortality are significantly higher among Eastern European countries as compared to their Western European counterparts. The significant financial burden on the healthcare system matches these sobering data. Thus, efficient programs for patients with HF have been called for. N-terminal prohormone of brain natriuretic peptide (NT-proBNP) represents a widely used, cost-effective, and readily available test that can be used to evaluate HF risk. However, it should not be used as a universal assessment, given the existing variability in proposed cut-off scores for various subgroups of patients. Thus, the clinical context needs to always be considered, and alternative diagnoses need to be ruled out. Based upon evidence from the literature for the above assumptions, the advantages and limitations of using NT-proBNP in primary care settings, along with other HF diagnostic modalities, are discussed in this paper. Also, this paper argues that an effective primary care network, in collaboration with specialist providers, may avoid a delay in HF diagnoses, may help provide on-time treatments, and may ultimately cut unnecessary healthcare expenditures associated with HF hospitalizations. Therefore, the present paper proposes an algorithm for diagnosing HF in primary care settings and discusses specific knowledge and skills that family physicians should be well equipped with in order to successfully respond to the needs of their patients with HF.

Back pain disability and PROMIS scores in children with hyperkyphosis are worse than children with idiopathic scoliosis.

To compare health-related quality-of-life (HRQOL) between children with hyperkyphosis and idiopathic scoliosis using 9-item Oswestry Disability Index (ODI-9) and Patient Reported Outcome Measurement Information System (PROMIS) Pain Interference, Mobility, and Anxiety. Children with hyperkyphosis, idiopathic scoliosis, and controls with no structural diagnosis ages 10-18years who completed the PROMIS Pediatric Pain Interference, Mobility, and Anxiety domains were retrospectively evaluated from April 2021 to June 2023. Comparisons were made between hyperkyphosis, idiopathic scoliosis, and control groups. Within the hyperkyphosis group, comparisons were made between Scheuermann kyphosis and postural kyphosis subgroups. 304 children with hyperkyphosis, 1134 with idiopathic scoliosis, and 1493 controls were included. Children with hyperkyphosis had increased age, male sex, BMI percentile, Spanish than English speakers, and public insurance type. They also had worse ODI-9, PROMIS Pain Interference and Mobility scores which remained significant after multivariate regression analysis included age, sex, BMI percentile, language, insurance type, and race/ethnicity (p < 0.01). The Scheuermann kyphosis (n = 67) subgroup had increased age, male sex, area deprivation index (ADI), BMI percentile, concern by their appearance, and worse PROMIS Pain Interference and Mobility scores than the postural kyphosis (n = 237) subgroup. However, Scheuermann kyphosis subgroup score differences did not remain significant after considering age, sex, ADI, and BMI percentile. Children with hyperkyphosis (both Scheuermann and postural kyphosis subtypes) have worse HRQOL scores than their peers with idiopathic scoliosis. Worse ODI-9, PROMIS Pain Interference and Mobility scores remained significant only in the hyperkyphosis group as a whole after adjusting for confounding variables, but not between hyperkyphosis subgroups.

Perfluorohexyloctane eye drops for dry eye disease associated with meibomian gland dysfunction: A subgroup analysis by menopausal status from a phase 3 trial

Aims/Purpose: In a randomized, double‐masked, phase 3 trial (NCT05515471), perfluorohexyloctane eye drops effectively improved signs and symptoms of dry eye disease (DED) associated with meibomian gland dysfunction (MGD). This post‐hoc analysis of the phase 3 trial provides efficacy and safety results by menopausal status subgroup.Methods: As previously detailed, patients with DED associated with MGD were randomly assigned 1: 1 to receive perfluorohexyloctane eye drops or 0.6% sodium chloride [NaCl]). Primary endpoints were changes from baseline in total corneal fluorescein staining (tCFS) and eye dryness scores at day 57. Menopause was defined as at least 12 consecutive months without menstruation. A random effects model adjusted for center and baseline values analyzed the efficacy data.Results: In total, 94 patients were menopausal (48 on perfluorohexyloctane, 46 on NaCl) and 151 patients were premenopausal (70 on perfluorohexyloctane, 81 on NaCl). At day 57, premenopausal patients treated with perfluorohexyloctane showed greater decreases from baseline in tCFS score and eye dryness score than the NaCl group, with differences between treatment groups of ‐1.35 (95% CI: ‐2.22, ‐0.48) and ‐14.51 (95% CI: ‐20.85, ‐8.17), respectively. In menopausal patients, decreases from baseline in tCFS score and eye dryness score at day 57 were noted in the perfluorohexyloctane group, with no evidence of between‐group differences (tCFS score difference: ‐0.98, 95% CI: ‐1.98, 0.03; eye dryness score difference: ‐7.09, 95% CI: ‐15.12, 0.94). Perfluorohexyloctane led to significantly greater improvements in burning/stinging sensation, awareness of DED symptoms, frequency of dryness, and ocular surface disease index score in both subgroups. Perfluorohexyloctane were well‐tolerated with similar safety profiles across subgroups.Conclusions: Perfluorohexyloctane eye drops showed efficacy and well tolerability for DED associated with MGD in both menopausal and premenopausal patients.

Proton Pump Inhibitors Use in Patients With Ischemic Stroke on Dual Antiplatelet Therapy at Low Risk of Upper Gastrointestinal Bleeding.

Current guidelines lack recommendations regarding the use of proton pump inhibitors (PPIs) for preventing upper gastrointestinal bleeding (UGIB) among patients at low risk for UGIB treated with dual antiplatelet therapy for ischemic stroke (IS). Our objective was to assess the effectiveness of PPIs in lowering the risk of significant UGIB in this patient group. A retrospective cohort study was conducted involving patients at low risk for UGIB admitted for IS between 2014 and 2018 and treated with dual antiplatelet therapy. The study used a nationwide claims database in Korea. The primary end point was significant UGIB during 12 months after IS. To evaluate the risk of significant UGIB based on PPI use, we performed a multivariable Cox regression analysis. Subgroup analyses and propensity score matching analysis were conducted for validation. Among 96 722 patients with IS at low risk for UGIB who were on dual antiplatelet therapy (mean age, 67.0 years; men: 63.0%), 16 084 (16.6%) were treated with PPIs. During 12 months of follow-up, 325 patients experienced significant UGIB, and 479 experienced any UGIB. PPI use was associated with a reduced risk of significant UGIB (hazard ratio, 0.63 [95% CI, 0.45-0.89]; P=0.009). This association was consistent in the subgroup and propensity score matching analyses. In patients with IS receiving dual antiplatelet therapy, PPI use reduced the risk of significant UGIB by 37% on average, even among low-risk patients. However, the use of PPIs in this patient group was limited, highlighting the need for additional prospective studies.

THE RELATIONSHIP BETWEEN PROBLEM SOLVING AND COPING WITH CHRONIC MUSCULOSKELETAL PAIN IN MEDICAL STUDENTS: A CROSS-SECTIONAL STUDY

Objective: The purpose of this study is to assess the relationship between problem-solving and coping with chronic musculoskeletal pain in medical students. Material and Methods: A total of 245 medical students (140 female, 105 male) were included in this cross-sectional study, conducted between January 2024 and March 2024. Participants were recruited for the study via an online questionnaire using a snowball sampling technique. Coping with chronic musculoskeletal pain was evaluated using the Pain Coping Inventory (PCI). Problem solving was assessed using the Problem Solving Inventory (PSI). Results: The prevalence of chronic musculoskeletal pain among medical students was 80.8%. The median active coping subgroup score of the PCI was 2.0 (IQR, 1.63-2.38). The mean passive coping subgroup score of the PCI was 2.10±0.49. The mean PSI score was 86.7±18.8. The PSI scores were negatively correlated with the PCI active coping subscale score (r=-0.159, p=0.025) and positively correlated with the PCI passive coping subscale score (r=0.210, p=0.003) in individuals with chronic musculoskeletal pain. Multivariate regression analysis showed that PSI score was the only factor associated with the PCI active coping score in the participants with chronic musculoskeletal pain (B=-0.004, p=0.024) (R2=0.026). The PSI score (B=0.006, p=0.001) and VAS score (B=0.045, p=0.016) were factors associated with the PCI passive coping score (R2=0.079). Conclusion: Problem-solving skills may influence the use of coping strategies for musculoskeletal pain. The development of problem-solving abilities, and even the teaching of such abilities from an early age, may prove beneficial in the management of chronic musculoskeletal pain.

Differential behaviour of a risk score for emergency hospital admission by demographics in Scotland—A retrospective study

The Scottish Patients at Risk of Re-Admission and Admission (SPARRA) score predicts individual risk of emergency hospital admission for approximately 80% of the Scottish population. It was developed using routinely collected electronic health records, and is used by primary care practitioners to inform anticipatory care, particularly for individuals with high healthcare needs. We comprehensively assess the SPARRA score across population subgroups defined by age, sex, ethnicity, socioeconomic deprivation, and geographic location. For these subgroups, we consider differences in overall performance, score distribution, and false positive and negative rates, using causal methods to identify effects mediated through age, sex, and deprivation. We show that the score is well-calibrated across subgroups, but that rates of false positives and negatives vary widely, mediated by various causes including variability in demographic characteristics, admission reasons, and potentially differential data availability. Our work assists practitioners in the application and interpretation of the SPARRA score in population subgroups.

Exploring immune gene expression and potential regulatory mechanisms in anaplastic thyroid carcinoma using a combination of single-cell and bulk RNA sequencing data.

Thyroid cancer includes papillary thyroid carcinoma (PTC) and anaplastic thyroid carcinoma (ATC). While PTC has an excellent prognosis, ATC has a dismal prognosis, necessitating the identification of novel targets in ATC to aid in ATC diagnosis and treatment. Therefore, we analyzed ATC single-cell RNA sequencing (scRNA-seq) and bulk RNA sequencing (bulk RNA-seq) data from the Gene Expression Omnibus (GEO), retrieved immune-related genes from the ImmPort database, and identified differentially expressed immune genes within single-cell subgroups. The AUCell package in R was used to calculate activity scores for single-cell subgroups and identify active cell populations. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis were performed on differentially expressed genes (DEGs) in active cell populations. Then, we integrated thyroid-cancer scRNA-seq and bulk RNA-seq data to identify overlapping DEGs. Relevant transcription factors (TFs) were retrieved from the TRRUST database. A protein-protein interaction (PPI) network for key TFs was created using the STRING database. Simultaneously, drugs associated with key TFs were obtained from DGIdb. ScRNA-seq cluster analysis showed that T/natural killer (NK) cells were more distributed in ATC and that thyrocytes cells were more distributed in PTC. We obtained 264 differential immune genes (DIGs) from the IMMPORT database and integrated scRNA-seq cluster analysis to identify the active cell T/NK cells and myeloid cells. Integrated bulk RNA-seq analysis obtained common immune genes (CIGs) such as TMSB4X, NFKB1, TNFRSF1B, and B2M. The nine CIG-related TFs (CEBPB, SPI1, NFKB1, RUNX1, NFE2L2, REL, CIITA, KLF6, and CEBPD) in myeloid cells and three TFs (NFKB1, FOXO1, and NR3C1) in T/NK cells were obtained from the TRRUST database. The key genes we identified represent potential targets for treating ATC.

Association between serum albumin with geriatric nutritional risk index and osteopenia in Chinese elderly men: a nested case-control study.

Malnutrition is associated with a higher risk of osteoporosis. We aim to assess the relationship between serum albumin with geriatric nutritional risk index and osteopenia in Chinese elderly men. This is a nested case-control study from a prospective cohort enrolled 1109 individuals who were followed for seven years. Demographic data, medical history, signs and symptoms, and laboratory parameters were collected and analysed. Nutritional status and Geriatric Nutritional Risk Index (GNRI) were assessed. The nutrition-related indexes predictive value for osteopenia development was analyzed through multivariate Cox regression analysis and by creating a receiver operating characteristic curve (ROC), calculating the area under the curve (AUC). Kaplan-Meier (K-M) method was further used to find the nutritional status level in the elderly men. The ALB and GNRI correlated with the risk of osteopenia in Chinese elderly men. After adjusting for all covariates, people with higher ALB level (HR: 0.821; 95% CI: 0.790-0.852) and higher GNRI score (HR: 0.889; 95% CI: 0.869-0.908) had a smaller risk of osteopenia. ROC analysis showed that the AUC for ALB was 0.729 (p<0.05) and for the GNRI score was 0.731 (p<0.05). K-M curve indicated a significant difference in ALB level (p<0.001) and GNRI score (p<0.001) in the respective subgroups. This study found that lower ALB level and lower GNRI score are associated with a higher prevalence of osteopenia among elderly men in China.

Evaluation of dyspepsia symptom severity in pediatric patients: association with endoscopic and pathological findings

Aims: There is diagnostic difficulty in distinguishing between organic and functional causes of dyspepsia, which is characterized by a variety of gastrointestinal symptoms. This study aimed to evaluate the correlation between dyspeptic complaints, clinical symptoms, endoscopic findings, and pathology results in pediatric patients. Methods: A total of 159 children aged 8-17 years with dyspeptic complaints underwent upper gastrointestinal endoscopy (UGE). The Dyspepsia Symptom Severity Index (DSSI), comprising three parts (dysmotility-like, reflux-like, and ulcer-like symptoms) and 19 questions, was used to assess symptom severity. Endoscopic procedures were performed under general anesthesia, and biopsy samples were obtained. Results: The study included 159 patients with a median age of 15 years (ranging from 8 to 17 years). Among them, 29.1% were male (38) and 76.9% were female (121). DSSI scores were calculated for each subgroup and the total score. When assessing the relationship between chronic diseases and DSSI scores, no significant association was found (p=0.48). However, smoking showed a significant correlation with DSSI scores (p=0.01 for dysmotility-like, p=0.02 for reflux-like, and p&lt;0.01 for ulcer-like symptoms). Gender differences were observed in DSSI scores, with girls exhibiting significantly higher median scores for dysmotility-like findings compared to boys (p=0.02). Endoscopy findings also correlated with DSSI scores, with significantly higher scores in patients with ulcers (p&lt;0.01). Pathological findings such as esophagitis were found to have significant associations with reflux-like symptoms (p=0.04), and crypt hyperplasia was associated with ulcer-like symptoms (p=0.04) in patients with DSSI subgroup scores. However, no significant differences were found between pathology findings and dyspepsia severity, significant associations were observed between UGE findings (such as ulcers, pangastritis, erosional areas, and fragility) and ulcer-like symptoms. Conclusion: The study found significant links between dyspepsia severity and endoscopic results, stressing the need for reliable symptom scales for pediatric patients. It also highlights smoking as a factor in dyspepsia severity in children. Further research is needed to evaluate endoscopy's effectiveness in distinguishing between organic and functional dyspepsia. The study points out the limited understanding and consensus on diagnosing and managing dyspepsia in children, calling for the development of validated symptom scales and further research into cost-effective management strategies.

Abstract 4121555: Integrated Polygenic Score Stratifies Risk of Peripheral Artery Disease and Major Adverse Limb Events

Background: Peripheral artery disease (PAD) is a heritable atherosclerotic condition. With growing knowledge of the genetic basis for PAD and related risk factors, there is opportunity to identify high-risk individuals for prevention and potentially intervention based on polygenic background. Aims: To develop and validate an integrated genome-wide polygenic score for PAD (GPS PAD ), evaluate association of polygenic risk with major adverse limb events (MALE), and compare predictive performance in diverse ancestral populations to previously published polygenic scores. Methods: We developed GPS PAD by integrating genetic association summary statistics for PAD and related traits stratified by ancestry. GPS PAD was trained in a sample of 96,239 European individuals from the UK Biobank, and validated in multi-ancestry cohorts, including a holdout validation UK Biobank dataset (N=304,294), and external All of Us (AoU; N=237,173) and Mass General Brigham Biobank datasets (N=37,017). GPS PAD performance was benchmarked against previously published polygenic scores and clinical risk factors. Results: GPS PAD was comprised of 603,595 variants with weights informed by association with PAD and ten PAD risk factors across five ancestry groups. GPS PAD had an OR-per SD of 1.63 in the holdout UK Biobank dataset (95% CI 1.60-1.68). GPS PAD outperformed previously published scores in non-European subgroups in the UK Biobank and achieved superior cross-population portability in external validation cohorts. GPS PAD was associated with incident PAD in the UK Biobank (HR 1.66; 95% CI 1.61-1.71) and achieved improvements in discrimination (ΔC-statistic 0.030) that were nearly equivalent to the additive performances of diabetes (ΔC-statistic 0.029) and smoking (ΔC-statistic 0.034) to the baseline model including age, sex, and 10 principal components of ancestry. Among individuals with prevalent PAD, GPS PAD was associated with incident MALE in the UK Biobank (HR 1.48; 95% CI 1.24-1.77). GPS PAD consistently identified individuals with PAD at high MALE-risk in the Mass General Brigham Biobank (HR 1.34; 95% CI 1.12-1.60), and AoU (HR 1.33; 95% CI 1.12-1.58). Conclusions: These findings contribute a polygenic score for PAD that predicts disease and MALE with cross-cohort performance and transferability to diverse ancestries. Integrated polygenic scores may be used to stratify PAD risk and target more aggressive management, lifestyle modification, and surveillance efforts.

Agreement of PROMIS Preference (PROPr) scores generated from the PROMIS-29 + 2 and the PROMIS-16

PurposePreference-based summary scores are used to quantify values, differences, and changes in health-related quality of life (HRQoL) that can be used for cost-effectiveness analyses. The PROMIS-Preference (PROPr) measure is a preference-based summary score comprised of 7 PROMIS domains. The PROMIS-16 is a new PROMIS profile instrument. We evaluated the measurement properties of PROPr generated from the widely used PROMIS-29 + 2 compared with the PROMIS-16.MethodsWe performed a secondary analysis of data from an online survey of the general US population, with a longitudinal subsample who reported back pain. The survey included both the PROMIS-16 and the PROMIS-29 + 2 profiles. PROPr scores were calculated from each profile and compared by the distribution of scores, overall mean scores, product-moment correlations with pain measure scores (Oswestry Disability Index, Roland-Morris Disability Questionnaire, Pain Intensity, Interference with Enjoyment of Life, Interference with General Activity Scale, and Graded Chronic Pain Scale), and difference in mean scores in subgroups with 13 chronic health conditions (Cohen’s d).ResultsOf the 4,115 participants in the baseline survey, 1,533 with any reported back pain were invited for the 6-month follow-up survey and 1,256 completed it. At baseline, the overall mean (SD) PROPr score was 0.532 (0.240) from PROMIS-16 and 0.535 (0.250) from PROMIS 29 + 2. At both time points, the correlations of PROPr scores with physical and mental health summary scores from the PROMIS-29 and 4 pain scales were within 0.01 between profiles. Using subgroups with chronic health conditions and comparing between profiles, Cohen’s d estimates of the difference in effect size were small (< 0.2).ConclusionPROPr scores from the 16-item PROMIS profile measure are similar to PROPr scores from the longer PROMIS-29 + 2.

Enhancement of the Mayo Clinic Genotype Predictor Score using Cardiac MRI

Abstract Introduction Hypertrophic cardiomyopathy (HCM) is the most prevalent heritable cardiomyopathy typically transmitted in an autosomal dominant fashion. There is growing importance in identifying genetic test positive patients given its prognostic value. The Mayo HCM Genotype Predictor Score has been extensively validated for assessment of patient’s pre-test probability for genotype positive HCM and helps guide clinical decision-making based on clinical and echocardiographic variables. Herein, we evaluated the role of cardiac magnetic resonance (CMR) to enhance the genotype predictor score. Purpose Evaluate performance of the Mayo Clinic HCM Genotype Predictor Score using CMR variables, and develop an updated, CMR incorporated score. Methods Retrospective analysis was conducted on 175 unrelated HCM patients with at least 1 MRI and a HCM genetic testing seen at the Mayo Clinic between April 2004 and April 2018. Phenotyping information was obtained through review of electronic medical records. The original Mayo HCM Genotype Predictor Score was calculated using both echocardiography and clinical variables. An updated score was created incorporating CMR-specific variables. Diagnostic accuracy of the models was assessed thought Receiver Operating Characteristic (ROC) curves. Results Overall, 108 (62%) were males with a mean age at CMR of 51 ± 18 years. The yield of positive genetic test for the echocardiogram-derived Mayo HCM Genotype Predictor Score ranged from 38% for patients with -1 point to 100% for patients with 4 or 5 points. There was a significant incremental increase in diagnostic yield between score subgroups (p &amp;lt; 0.01) with an AUC of 0.659 (Figure 1A). Similar findings were observed using CMR variables (AUC of 0.697; Figure 1B). Univariate and multivariate analysis identified late gadolinium enhancement (LGE) as a strong predictor of a positive genetic test (OR 3.72; p=0.002), and it was added to the original score to create a new version. The Updated Mayo HCM Genotype Predictor Score predicted a positive genetic test ranging from 25% for patients with -1 point to 100% for patients with 5 or 6 points (p &amp;lt; 0.01). There was a significant increase in diagnostic accuracy when compared to the original score (AUC 0.724 vs 0.679; p=0.03; Figure 1C). Conclusion Using LGE, the updated CMR-based Mayo HCM Genotype Predictor score provides a simple and improved tool to aid in genetic counseling for HCM patients.

Differences in eating behaviours and mothers attitudes between baby-led weaning vs. traditional spoon-feeding approaches in Turkiye

This study was aimed to examine the differences in eating behaviours and mothers attitudes between baby-led vs. traditional spoon-feeding approaches and its effect on eating behaviours in preschool children. The study was conducted with 150 mothers of children aged 2–6, who applied to the Pediatrics Polyclinic of Başkent University Ankara Hospital, between December 2022 and February 2023. Sociodemographics, biochemical parameters were recorded to form. Maternal attitudes and eating behaviours of children were evaluated with Mother's Attitudes Towards the Feeding Process Scale (MATFP) and Early Childhood Adaptive Eating Behaviour Scale (ECAEB), respectively. The mean age of the children was 43.80 ± 11.04 months and 51.3% of them were girls. A weak negative correlation was found between the ECAEB total scores and the child age (r = −0.196, p < 0.05). A moderate positive correlation was found between the total scores of the MATFP and ECAEB (r = 0.699, p < 0.001). There wasn't significant difference between the MATFP total scores who chose baby-led weaning or traditional feeding (p > 0.05). According to the ECAEB; aggression and reaction to main meal order subgroup scores of children who consumed pureed vegetables until the ninth month were higher than those who didn't consume them (p < 0.05). Mothers who prefer the TSF offer their babies more blenderized and pureed foods, while those who prefer the BLW serve fork-mashed, steamed and sliced foods (p < 0,05). As the mothers‘ subscale scores for negative affect during meals, attitudes about insufficient/unbalanced feeding, negative feeding strategies, forced feeding, reaction to viewpoint of others increase, so did their subscale scores for child reluctance, eating refusal associated with sensory causes, aggression, reaction to main meal order increase. Consequently, it's believed that maternal attitudes and actions should be taken into account while evaluating the eating habits of toddlers.

Gender and age specific dynamics of health-related postoperative outcome measures following the laparoscopic sleeve gastrectomy

BackgroundA variety of bariatric surgical techniques have been implemented to manage obesity, including the laparoscopic sleeve gastrectomy (LSG).The aim of the study was to compare the pre and postoperative features of patients undergoing LSG, analyze the dynamics of BMI and BAROS indices and to assess the impact of body appearance concern on the postoperative outcomes. MethodsA total of 591 participants were divided into 3 age groups (20–39, 40–59 and over 60 years of age). The Charlson Comorbidity Index was used to assess comorbidity in patient groups. The rate of complications, assessment of psychological well-being and number of hospital days for patients were used to compare the features of postoperative recovery in different age groups. ResultsIn the young and middle-aged groups, the BMI reduction speed was similar, and significantly higher than in the elder group with a faster rate of BMI reduction in female participants. Higher scores of BAROS were revealed in the young and middle-aged groups for the 0–1 and 1–6 month periods. The 12-month assessment revealed much higher BAROS scores for male subgroups, compared to female participants. The BAROS scores decreased gradually in female groups within the assessment periods and was the lowest in the third assessment. ConclusionsThe pattern of BAROS reduction can be the result of lower psychological and social well-being scores in female participants who reported significant weight reduction in 6–12 month period with paradoxically decreased quality of life scores explained by the impact of body appearance concern on the postoperative outcomes.

Can ChatGPT-4 Think Like an Orthopaedic Surgeon? Testing Clinical Judgement and Diagnostic Ability in Pathologies of the Foot and Ankle

Category: Other; Ankle Introduction/Purpose: Artificial intelligence chatbots have seen a notable rise in recent years, especially with the creation of ChatGPT, a chatbot that utilizes a language learning model with an ability to carry human-like conversation. While ChatGPT does not have any specific medicine-related training, prior studies have shown that its newest version, GPT-4, has been able to pass professional licensing examinations and perform comparably on question bank sets as surgical residents. The purpose of this study was to explore the diagnostic and decision-making capacities of ChatGPT-4 in clinical management specifically assessing for accuracy in identification and treatment of foot and ankle pathologies. Methods: This study presented 16 foot and ankle cases to ChatGPT-4. Each case was evaluated by 3 fellowship-trained foot and ankle orthopaedic surgeons. The scoring system included 5 criteria within a Likert scale, with 5 being the lowest score and 25 being the highest possible. The criteria included stating the correct diagnosis, stating the most appropriate procedure, identification of alternative treatments, providing comprehensive information beyond treatment, and not mentioning nonexisting therapies. ChatGPT-4 was referred to as “Dr. GPT”, using role prompting to encourage step-by-step processing and establish a peer dynamic so that the role of an orthopaedic surgeon was emulated by the chatbot. The 16 cases presented included the following: plantar fasciitis, Morton neuroma, ankle sprain, Achilles tendon rupture, Achilles tendonitis, metatarsalgia, peroneal tendon tear, posterior tibial tendon insufficiency, distal fibula fracture, 2nd metatarsal stress fracture, 5th metatarsal fracture, ankle arthritis, hallux rigidus, Lisfranc injury, midfoot arthritis, and hallux valgus. Results: The average score across all criteria for all 16 cases was 4.47, with an average sum score of 22.4. The plantar fasciitis case received the highest score, with an average sum score of 24.7. The lowest score was observed in the peroneal tendon tear case, with an average sum score of 16.3. Subgroup analyses of each of the 5 criterion using Friedman Rank Sum tests showed no statistically significant differences in surgeon grading. Criterion 5, lack of mention of nonexistent treatment options, and criterion 1, the ability for ChatGPT to correctly diagnose, received the highest subgroup scores of 4.88 and 4.77, respectively. The lowest criteria score was observed in criteria 4 (4.05), evaluating ChatGPT-4 providing comprehensive information beyond treatment options. Conclusion: This study demonstrates that ChatGPT-4 effectively diagnosed and provided reliable treatment for most foot and ankle cases presented, noting consistency amongst surgeon evaluators. The individual criterion assessment revealed that ChatGPT-4 was most effective in diagnosing pathologies. Additionally, the chatbot consistently did not suggest nonexistent treatment options, a common finding in prior studies evaluating ChatGPT-3.5 in which fabricated information was presented in a manner that was seemingly true. This resource could be useful for clinicians seeking patient education materials on diagnoses and treatment options without fear of incorrect information presentation, though comprehensive information beyond treatment may be limited.

Utility of the modified Ottawa score for identification of more preferable candidates of extended anticoagulation therapy in cancer-associated isolated distal deep vein thrombosis: insight from the ONCO DVT Study

BackgroundThe ONCO DVT study (Edoxaban for 12 Months Versus 3 Months in Patients With Cancer With Isolated Distal Deep Vein Thrombosis) revealed superiority of 12-month relative to 3-month edoxaban treatment for the thrombotic risk in cancer-associated isolated distal deep vein thrombosis. However, it is unknown whether the superiority could be common in different modified Ottawa score subgroups. ObjectivesTo identify more preferable candidates for extended anticoagulation in patients with cancer-associated isolated distal deep vein thrombosis using the modified Ottawa score. MethodsIn this post-hoc subgroup analysis of the ONCO DVT study, we stratified 601 patients into the low (≤−1, N = 126), intermediate (0, N = 323), and high (≥1, N = 152) modified Ottawa score subgroups and compared clinical outcomes between the 12-month and 3-month edoxaban treatment groups. ResultsThe cumulative incidence of symptomatic recurrent venous thromboembolism or venous thromboembolism–related death was not different between the 12-month and 3-month edoxaban treatment groups in the low score subgroup (0.0% vs 2.2%), whereas it was lower in the 12-month than in the 3-month edoxaban treatment group in the intermediate (0.8% vs 7.6%) and high (3.1% vs 15.6%) score subgroups. There were no significant differences in the cumulative incidences of the major bleeding between the 12-month and 3-month edoxaban treatment groups in the low (10.1% vs 7.6%), intermediate (8.8% vs 5.0%), and high (13.9% vs 12.6%) score subgroups. ConclusionA 12-month compared with 3-month edoxaban treatment showed a lower risk of thrombotic events in patients with cancer-associated isolated distal deep vein thrombosis in the intermediate and high modified Ottawa score subgroups but not in the low score subgroup, suggesting a limited benefit of extended anticoagulation therapy beyond 3 months in patients with low modified Ottawa score.

Single-cell RNA Sequencing Analysis Reveals Cancer-associated Fibroblast Signature for Prediction of Clinical Outcomes and Immunotherapy in Gastric Cancer.

Gastric cancer (GC) is a significant worldwide health concern and is a leading cause of cancer-related mortality. Immunotherapy has arisen as a promising strategy to stimulate the patient's immune system in combating cancer cells. Nevertheless, the effectiveness of immunotherapy in individuals with gastric cancer (GC) is not yet optimal. Thus, it is crucial to discover biomarkers capable appof predicting the advantages of immunotherapy for tailored treatment. The tumor microenvironment (TME) and its constituents, including cancer-associated fibroblasts (CAFs), exert a substantial influence on immune responses and treatment outcomes. In this investigation, we utilized single-cell RNA sequencing to profile CAFs in GC and established a scoring method, referred to as the CAF score (CAFS), for the prediction of patient prognosis and response to immunotherapy. Through our analysis, we successfully identified distinct subgroups within CAFs based on CAF score (CAFS), namely CAFS-high and CAFS-low subgroups. Notably, we noted that individuals within the CAFS-high subgroup experienced a lessF favorable prognosis and displayed diminished responsiveness to immunotherapy in contrast to the CAFS low subgroup. Furthermore, we analyzed the mutation and immune characteristics of these subgroups, identifying differentially mutated genes and immune cell compositions. We established that CAFS could forecast treatment advantages in patients with gastric cancer, both for chemotherapy and immunotherapy. Its efficacy was additionally confirmed in contrast to other biomarkers, including Tumor Immune Dysfunction and Exclusion (TIDE) and Immunophenotypic Score (IPS). These findings emphasize the clinical relevance and potential utility of CAFS in guiding personalized treatment strategies for gastric cancer.

Prognostic analysis of anoikis-related genes in bladder cancer: An observational study.

Anoikis is proved to play a crucial role in the development of cancers. However, the impact of anoikis on the prognosis of bladder cancer (BLCA) is currently unknown. Thus, this study aimed to find potential effect of anoikis in BLCA. The Cancer Genome Atlas (TCGA)-BLCA and GSE13507 cohorts were downloaded from TCGA and the Gene Expression Omnibus (GEO) databases, respectively. Differentially expressed genes (DEGs) were screened between BLCA and normal groups, which intersected with anoikis-related genes to yield anoikis-related DEGs (AR DEGs). Univariate COX, rbsurv, and multivariate COX analyses were adopted in order to build a prognostic risk model. The differences of risk score in the different clinical subgroups and the relevance between survival rate and clinical characteristics were explored as well. Finally, chemotherapy drug sensitivity in different risk groups was analyzed. In total, 78 AR DEGs were acquired and a prognostic signature was build based on the 6 characteristic genes (CALR, FASN, CSPG4, HGF, INHBB, SATB1), where the patients of low-risk group had longer survival time. The survival rate of BLCA patients was significantly differential in different groups of age, stage, smoking history, pathologic-T, and pathologic-N. The IC50 of 56 drugs showed significant differences between 2 risk groups, such as imatinib, docetaxel, and dasatinib. At last, the results of real time quantitative-polymerase chain reaction (RT-qPCR) demonstrated that the expression trend of CALR, HGF, and INHBB was consistent with the result obtained previously based on public databases. Taken together, this study identified 6 anoikis-related characteristic genes (CALR, FASN, CSPG4, HGF, INHBB, SATB1) for the prognosis of BLCA patients, providing a scientific reference for further research on BLCA.