The AG genotype of the rs1761667 polymorphism in the CD36 gene may be involved in CAD pathogenesis as well as increased body mass index (BMI), T2DM and MetS in the Sohag population of Egypt.
Angiotensin converting enzyme (ACE) gene polymorphism was previously studied in some cardiovascular diseases. There are only few studies which investigated this polymorphism in patients with rheumatic heart disease (RHD). The results of these investigations are inconsistent. Furthermore, gene polymorphism distribution is different in various ethnic populations. We conducted this study to demonstrate this gene polymorphism in Egyptian children with RHD. Leukocytes DNA was extracted from 139 patients with RHD and 79 healthy control children. After amplification by the PCR, the products were separated by electrophoresis in 6% polyacrylamide gel and visualized after ethidium bromide staining with UV light. The PCR product is a 190-bp fragment in the absence of the insertion (D allele) and a 490-bp fragment in the presence of the insertion (I allele). Gene polymorphism was as follows: DD gene when lane contains only 190-bp fragment, II gene when lane contains only 490-bp fragment and ID gene when lane contains both fragments. We found that gene polymorphism in both control and patients groups followed the following order of distribution from highest to lowest: ID, II, DD gene. The frequency in control group was 49.4, 36.7, and 13.9%, respectively. In patients groups, the gene frequency was 42.5, 30.9, and 26.6%, respectively. DD gene frequency differs significantly between the two groups. We concluded that patients with RHD have a higher ACE-DD genotype than normal control. ACE-DD genotype may be a risk factor for RHD in Egyptian children.
Background
Acute pulmonary thromboembolism (PTE) is one of the serious medical issues with higher prevalence and mortality rates. As mentioned in several medical reports, most of the chest pain patients, visiting the emergency departments, are usually diagnosed with either acute PTE, acute coronary syndromes, or acute aortic syndromes. The current study aimed to study the risk factors and explore the echocardiographic findings in patients with PTE.
Results
Forty patients with acute pulmonary embolism were enrolled in the study. Echocardiography and computed tomography pulmonary angiography (CTPA) were evaluated for all participants. The echocardiography showed that 29 patients (72.5%) had echocardiographic findings suggestive of acute PTE. Twenty-four patients (60%) had tricuspid regurge. Twenty-one patients (52.5%) had dilated right ventricle (RV). Also, 13 patients (32.5%) had an echocardiographic finding of pulmonary hypertension. Furthermore, ten patients (25%) had McConnell’s sign, and 21 patients (52.5%) had RV systolic dysfunction where only two (5%) showed RV thrombosis. Echocardiographic data of the eight high-risk patients showed that 6 patients (75%) had TR, 8 patients (100%) had dilated RV, 5 patients (62.5%) had pulmonary hypertension, 8 patients (100%) had McConnell’s sign, one patient (12.5%) had RV thrombus, and 8 patients (100%) had RV systolic dysfunction.
Conclusion
The results revealed that thrombus in the main pulmonary trunk was a high-risk factor for patients with acute pulmonary embolism. The current study suggested that echocardiography is an important bedside imaging tool for the diagnosis of PTE. Echocardiography could detect the tricuspid regurge, pulmonary hypertension, McConnell’s sign, RV dilatation, thrombosis, and dysfunction. Furthermore, echocardiography was considered a non-invasive test for rapid diagnosis of PTE and determining the degree of the risk category (high- or low-risk patients) specially with the presence of McConnell’s sign, dilated RV, and RV systolic dysfunction.
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