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).
Background. Transformation of EGFR (epidermal growth factor receptor) -mutant non-small cell lung cancer (NSCLC) into small-cell lung cancer (SCLC) is one mechanism of resistance to tyrosine kinase inhibitor (TKI) treatment, seen in approximately 3-10% cases. Such transformed SCLC often retains the original EGFR mutation (EGFRM), which is not otherwise observed in SCLC. Case report. We present a 67 y/o woman with pulmonary adenocarcinoma (AC) and EGFRM deletion on exon 19. After initial treatment with whole brain radiotherapy and 7 months of TKI afatinib, progression was observed. Liquid biopsy detected deletion on exon 19 and T790M mutation. Chemotherapy carboplatin plus pemetrexed was administered, with no response. Genetics from a rebiopsy of lung revealed deletion on exon 19. After 12 months treatment with TKI osimertinib, a progression in lung and pancreas lesions was detected, docetaxel was used, with followig progression. The lung biopsy revealed SCLC. Significant elevation of serum markers carcinoembryonic antigen (CEA) and neuronspecific enolase (NSE) was observed at the time of the SCLC diagnosis. Treatment with carboplatin and etoposide was not effective. The next biopsy found two populations of cells: SCLC and AC. The biopsy from the pancreatic lesion revealed metastasis of SCLC. PCR confirmed EGFRM deletion on exon 19 in the lung SCLC tissue sample. The following treatment lines of topotecan, erlotinib were not effective. The patient survived 36 months from diagnosis, 7 months from detection of SCLC. Conclusion.Screening for transformation of EGFR-mutant NSCLC to SCLC should be considered in resistance to TKI. In the presented case, this rare transformation was confirmed by histopathologic examination and by PCR. EGFRM in the lung SCLC, identical to that found in the original lung AC, was detected. Further, the observed elevation of serum tumor markers NSE and CEA can indicate this infrequent transformation and help to decide on rebiopsy.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.