The prevalence and genetic susceptibility of autoimmune diseases (ADs) may vary depending on latitudinal gradient and ethnicity. The aims of this study were to identify common human leukocyte antigen (HLA) class II alleles that contribute to susceptibility to six ADs in Latin Americans through a meta-analysis and to review additional clinical, immunological, and genetic characteristics of those ADs sharing HLA alleles. DRB1∗03:01 (OR: 4.04; 95%CI: 1.41–11.53) was found to be a risk factor for systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), and type 1 diabetes mellitus (T1D). DRB1∗04:05 (OR: 4.64; 95%CI: 2.14–10.05) influences autoimmune hepatitis (AIH), rheumatoid arthritis (RA), and T1D; DRB1∗04:01 (OR: 3.86; 95%CI: 2.32–6.42) is a susceptibility factor for RA and T1D. Opposite associations were found between multiple sclerosis (MS) and T1D. DQB1∗06:02 and DRB1∗15 alleles were risk factors for MS but protective factors for T1D. Likewise, DQB1∗06:03 allele was a risk factor for AIH but a protective one for T1D. Several common autoantibodies and clinical associations as well as additional shared genes have been reported in these ADs, which are reviewed herein. These results indicate that in Latin Americans ADs share major loci and immune characteristics.
SETDB1 is a key histone lysine methyltransferase involved in gene silencing. The SETDB1 gene is amplified in human lung cancer, where the protein plays a driver role. Here, we investigated the clinical significance of SETDB1 expression in the two major forms of human non-small cell lung carcinoma (NSCLC), i.e., adenocarcinoma (ADC) and squamous cell carcinoma (SCC), by combining a meta-analysis of transcriptomic datasets and a systematic review of the literature. A total of 1140 NSCLC patients and 952 controls were included in the association analyses. Our data revealed higher levels of SETDB1 mRNA in ADC (standardized mean difference, SMD: 0.88; 95% confidence interval, CI: 0.73–1.02; p < 0.001) and SCC (SMD: 0.40; 95% CI: 0.13–0.66; p = 0.003) compared to non-cancerous tissues. For clinicopathological analyses, 2533 ADC and 903 SCC patients were included. Interestingly, SETDB1 mRNA level was increased in NSCLC patients who were current smokers compared to non-smokers (SMD: 0.26; 95% CI: 0.08–0.44; p = 0.004), and when comparing former smokers and non-smokers (p = 0.009). Furthermore, the area under the curve (AUC) given by the summary receiver operator characteristic curve (sROC) was 0.774 (Q = 0.713). Together, our findings suggest a strong foundation for further research to evaluate SETDB1 as a diagnostic biomarker and/or its potential use as a therapeutic target in NSCLC.
Polyautoimmunity is one of the major clinical characteristics of autoimmune diseases (ADs). The aim of this study was to investigate the prevalence of ADs in spondyloarthropathies (SpAs) and vice versa. This was a two-phase cross-sectional study. First, we examined the presence of ADs in a cohort of patients with SpAs (N = 148). Second, we searched for the presence of SpAs in a well-defined group of patients with ADs (N = 1077) including rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and Sjögren's syndrome (SS). Among patients with SpAs, ankylosing spondylitis was observed in the majority of them (55.6%). There were two patients presenting with SS in the SpA group (1.4%) and 5 patients with autoimmune thyroiditis (3.5%). The global prevalence of ADs in SpAs was 4.86%. In the ADs group, there were 5 patients with SpAs (0.46%). Our results suggest a lack of association between SpAs and ADs. Accordingly, SpAs might correspond more to autoinflammatory diseases rather than to ADs.
Global Longitudinal Strain (GLS) is a useful tool to follow-up heart transplant (HT) recipients. Important inter-vendor variability of GLS measurements has been reported in healthy subjects and different conditions, but there is still limited evidence among HT patients. We assessed the reliability and validity of GLS using two vendors (General Electric and Philips) in a group of consecutive and stable adult HT recipients. Patients underwent two concurrent GLS analyses during their echocardiographic follow-up. We evaluated GLS inter-vendor reliability using Bland-Altman's limits of agreement (LOA) plots, computing its coverage probability (CP) and the intraclass correlation coe cient (ICC). Validity was assessed though receiver operating characteristics (ROC) curves, predictive values, sensitivity and speci city of GLS for each vendor to detect a normal left ventricle function. 78 pairs of GLS studies in 53 stable HT patients were analyzed. We observed a modest inter-vendor reliability with a broad LOA (less than 50% of values falling out our CP of 2% and an ICC of 0.49). ROC analyses (areas under the curve of 0.824 Vs. 0.631, p<0.05) and diagnosis test indices (Sensitivity of 0.73 Vs. 0.64; and Speci city of 0.79 Vs. 0.50) favored GE over Philips. Inter-vendor variability for GLS analysis exceeded clinically acceptable limits in HT recipients. GLS from GE software seemed to show higher validity as compared to Philips'. The present study provides evidence to consider caution for the interpretation of GLS for clinical management in the follow-up of HT patients, especially when GLS is measured by different vendors.
Background Congenital rubella syndrome, also known as Gregg syndrome (after Dr. Norman Gregg’s first description in 1941) is a variable constellation of multisystemic manifestations caused by rubella intrauterine infection. In this case, a patient known to have Gregg syndrome underwent trans-thoracic echocardiogram (TTE) and cardiac magnetic resonance (CMR) for optimizing the characterization and determining the status of her disease. Case report A 31-year-old female attends routine cardiology outpatient clinic prior initiation of pregnancy due to prior history of Gregg syndrome. Extent of disease includes congenital cataracts, neurosensorial bilateral hearing loss, supra-valvular aortic stenosis (treated percutaneously at age 4 with a subsequent aortic root reconstruction with homograft at age 6) and pulmonary artery stenosis (status-post surgical correction followed by angioplasty at age 9). The patient was asymptomatic with functional class NYHA I and was taking no medication. A TTE was requested which showed a left ventricle with low-normal systolic function. At the pulmonary valve, she had a residual peak velocity and mean gradient of 2.6 m/sec and 15 mmHg, respectively, with moderate regurgitation; the right ventricle was dilated with mild systolic dysfunction. Doppler evaluation of the ascending aorta revealed a peak velocity of 3,5 m/sec and a mean gradient of 30 mmHg (Figure 1a). Anatomical evaluation was limited because of the acoustic window but due to the cited hemo-dynamics, a CMR was requested for further characterization of her disease prior to pregnancy. CMR showed a normal sized left ventricle with an ejection fraction of 62%, without late gadolinium enhancement. The right pulmonary artery lumen was diminished, probably corresponding to an artifact due to previous stent angioplasty. In the ascending aorta there was residual supra-valvular aortic stenosis 9 mm from the sino-tubular junction with an adjacent, non-mobile, 33 x 39 x 20 mm mass, anterior to the aorta and immediately posterior to the sternum, consistent with aortic pseudoaneurysm (Figure 1b). Due to this finding pregnancy was discouraged, and she was referred to the Cardiovascular Surgery for aortic pseudoaneurysm correction. Conclusion Although infrequent because of successful worldwide vaccination policies, sporadic cases of Gregg syndrome can still be seen, especially in neglected populations with poor access to health services or in unvaccinated patients. Long-term follow-up of all patients undergoing repair procedures is warranted for evaluation of late occurring complications. This case underscores the importance of multimodality imaging for a complete anatomical and functional diagnosis of complex cardiovascular conditions. Abstract P1489 Figure 1
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