Scottish Medical Journal最新文献

Background: This study employs machine learning strategy algorithms to screen the optimal gene signature of pulmonary arterial hypertension (PAH) under big data in the medical field.

Methods: The public database Gene Expression Omnibus (GEO) was used to analyze datasets of 32 normal controls and 37 PAH disease samples. The enrichment analysis was performed after selecting the differentially expressed genes. Two machine learning methods, the least absolute shrinkage and selection operator (LASSO) and support vector machine (SVM), were used to identify the candidate genes. The external validation data set further tests the expression level and diagnostic value of candidate diagnostic genes. The diagnostic effectiveness was evaluated by obtaining the receiver operating characteristic curve (ROC). The convolution tool CIBERSORT was used to estimate the composition pattern of the immune cell subtypes and to perform correlation analysis based on the combined training dataset.

Results: A total of 564 differentially expressed genes (DEGs) were screened in normal control and pulmonary hypertension samples. The enrichment analysis results were found to be closely related to cardiovascular diseases, inflammatory diseases, and immune-related pathways. The LASSO and SVM algorithms in machine learning used 5 × cross-validation to identify 9 and 7 characteristic genes. The two machine learning algorithms shared Caldesmon 1 (CALD1) and Solute Carrier Family 7 Member 11 (SLC7A11) as genetic signals highly correlated with PAH. The results showed that the area under ROC (AUC) of the specific characteristic diagnostic genes were CALD1 (AUC = 0.924) and SLC7A11 (AUC = 0.962), indicating that the two diagnostic genes have high diagnostic value.

Conclusion: CALD1 and SLC7A11 can be used as diagnostic markers of PAH to obtain new insights for the further study of the immune mechanism involved in PAH.

Background and aims: Urinary bladder recurrences (UBRs) after radical nephroureterectomy (RNUx) are a known challenge in patients with upper-tract urothelial cancers (UTUCs). We aim to assess factors associated with UBR and clonal-relatedness with resected UTUC.

Methods: Patients who underwent RNUx for UTUC between 1998 and 2015 in five institutions were identified. Clonal relatedness between primary UTUC and subsequent UBR in a sub-cohort was assessed using next-generation sequencing. A Kaplan-Meier curve was used to assess differences in UBR between two groups (with or without ureteroscopic biopsy).

Results: Of 267 patients with complete records, 73 (27.3%) had UBR during follow-up. The five-year UBR-free survival in all patients was 64.7%. The five-year UBR-free-survival was inferior in patients who underwent URS biopsy compared with patients who did not undergo ureteroscopic biopsy (49.9% vs 76.4%, p < 0.001). History of bladder tumour (HR, 95% CI; 2.94, 1.73-5.00, p < 0.001), ureteroscopic biopsy (HR, 95% CI; 2.21, 1.38-3.53, p = 0.001) and preoperative urine cytology ≥C3 (HR, 95% CI; 2.06, 1.24-3.40, p = 0.005) were independently associated with UBR. Patients with ureteroscopic biopsy (n = 3/5) showed identical mutational changes for common genes (TP53 and FGFR3) between primary UTUC and subsequent UBR.

Conclusions: Ureteroscopic biopsy of UTUC is a significant risk factor for UBR. Qualitative clonality assessment showed identical mutational signatures between primary UTUC and UBR.

Background and aims: The 'inverse care law', first described in 1971, results from a mismatch of healthcare need and healthcare supply in deprived areas. GPs in such areas struggle to cope with the high levels of demand resulting in shorter consultations and poorer patient outcomes. We compare recent national GP and patient satisfaction data to investigate the ongoing existence of this disparity in Scotland.

Methods and results: Secondary analysis of cross-sectional national surveys (2017/2018) on upper and lower deprivation quintiles. GP measures; job satisfaction, job stressors, positive and negative job attributes. Patient measures; percentage positive responses per practice on survey questions on access and consultation quality. GPs in high deprivation areas reported lower job satisfaction and positive job attributes, and higher job stressors and negative job attributes compared with GPs in low deprivation areas. Patients living in high deprivation areas reported lower satisfaction with access and consultation quality than patients in low deprivation areas. These differences in GP and patient satisfaction persisted after adjusting for confounding variables.

Conclusions: Lower GP work satisfaction in deprived areas was mirrored by lower patient satisfaction. These findings add to the evidence that the inverse care law persists in Scotland, over 50 years after it was first described.

Background & aims: We utilized a triangulation method of a faculty development program's (FDP) evaluation comprising short-course workshops on classroom behaviors and lecturing skills of basic sciences faculty in a medical school.

Methods & results: This study utilized data from the pre and post evaluation of classroom lectures by an expert observer. Course participants were observed before the inception of a 4-month FDP and after 6-months of program completion. Findings at 6-month post-FDP interval were supplemented with students' and participant's self-evaluation. Expert evaluation of 15 participants showed that more participants were summarizing lectures at the end of their class (p = 0.021), utilizing more than one teaching tool (p  =  0.008) and showing a well-structured flow of information (p = 0.013). Among the students, majority (95.5%, n  =  728) agreed on "teachers were well-prepared for the lecture", however, a low number (66.1%, n  =  504) agreed on "teachers were able to make the lecture interesting". On self-evaluation (n =  12), majority of the participants (91.7%, n  =  11) thought these FDP workshops had a positive impact on their role as a teacher.

Conclusions: Gathering feedback from multiple sources can provide a more holistic insight into the impact of an FDP and can provide a robust framework for setting up future FDP targets.