RNF213/Mysterin has been identified as a susceptibility gene for moyamoya disease, a cerebrovascular disease characterized by occlusive lesions in the circle of Willis. The p.R4810K (rs112735431) variant is a founder polymorphism that is strongly associated with moyamoya disease in East Asia. Many non-p.R4810K rare variants of RNF213 have been identified in white moyamoya disease patients, although the ethnic mutations have not been investigated in this population. In the present study, we screened for RNF213 variants in 19 Slovakian and Czech moyamoya disease patients. A total of 69 RNF213 coding exons were directly sequenced in 18 probands and one relative who suffered from moyamoya disease in Slovakia and the Czech Republic. We previously reported one proband harboring RNF213 p.D4013N. Results from the present study identified four rare variants other than p.D4013N (p.R4019C, p.E4042K, p.V4146A, and p.W4677L) in four of the patients. P.V4146A was determined to be a novel de novo mutation, and p.R4019C and p.E4042K were identified as double mutations inherited on the same allele. P.W4677L, found in two moyamoya disease patients and an unaffected subject in the same pedigree, was a rare single nucleotide polymorphism. Functional analysis showed that RNF213 p.D4013N, p.R4019C and p.V4146A-transfected human umbilical vein endothelial cells displayed significant lowered migration, and RNF213 p.V4146A significantly reduced tube formation, indicating that these are disease-causing mutations. Results from the present study identified RNF213 rare variants in 22.2% (4/18 probands) of Slovakian and Czech moyamoya disease patients, confirming that RNF213 may also be a major causative gene in a relative large population of white patients.
OBJECTIVES: To present our experience with initial fabrication of 3D printed model of heart from cardiac magnetic resonance (CMR) imaging data. METHODS: A 20-year-old patient with a congenital heart defect after a surgical correction underwent CMR imaging. A novel whole-heart CMR imaging sequence, not requiring gadolinium contrast material application, was performed. Image data from this CMR sequence were used for 3D heart model printing. RESULTS: A lifelike 3D printed copy of the heart with a congenital defect with superior visualization of cardiovascular anatomical details was successfully fabricated. CONCLUSION: 3D printing of the heart copies from novel whole heart CMR imaging data is feasible and harmless to patients. These models can be used for operative planning of complex congenital heart defects (Fig. 4, Ref. 14).
The aim of this case report is to show the capability of cardiac computed tomography (CT) in combination with dual-energy CT (DECT) delayed myocardial enhancement to support diagnostic decision making in the complicated differential diagnosis of true versus false left ventricle (LV) aneurysm, as well as provide additional information that can influence overall patient outcome. We present a 71-year-old obese patient with metabolic syndrome, stable chronic coronary syndrome with three-vessel disease, and recent chest discomfort. His coronary angiogram showed no significant coronary artery stenosis, but suspicion of LV apical pseudoaneurysm was expressed. Neither transthoracic nor transesophageal echocardiography was able to dismiss this suspicion. Consequently, coronary CT angiography (CCTA) followed by DECT delayed myocardial enhancement was performed. Findings on CCTA and DECT confirmed the diagnosis of a true aneurysm. Moreover, fibrotic changes within the hypertrophic myocardium were visualized. This finding will influence further patient therapy as well as the outcome. DECT delayed myocardial enhancement can be an important complementary tool for distinguishing true versus false LV aneurysms. Moreover, it can provide additional information for making complex diagnose. Adding DECT delayed myocardial enhancement to CCTA can replace cardiac magnetic resonance imaging evaluation in certain settings.
Lung cancer (LC) represents a major healthcare issue worldwide. It is the leading cause of cancer-related mortality in Slovakia and European Union. Data from multiple randomized controlled trials have shown signifi cant evidence of a mortality benefi t in LC using screening with low-dose computed tomography of the chest (LDCT). Therefore, European healthcare authorities, relevant expert societies, and professional organizations recommend implementing national LC screening (LCS) programs in their member countries. This article outlines the basic methodology, guidelines, and practical aspects of LCS implementation strategies in Slovakia. We describe fundamental principles to identify asymptomatic high-risk patients reduce false positive and false negative results, decrease benign resection rates, and avoid unnecessary invasive procedures. The effi cacious utilization of public resources to secure the highest possible quality standards of LDCT plays a crucial role in successfully implementing a nationwide LCS program (Tab. 1, Fig. 4, Ref. 31).
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