Background:Gliomas that aggregate in families with history of malignancy may have an inheritable genetic basis. Gliomas can occur in several well known tumor syndromes. However, their occurrence in the absence of these syndromes is quite rare. High-grade gliomas, such as glioblastoma multiforme (GBM), are the most common and most lethal primary cancers of the central nervous system (CNS).Case Description:We present a case of two brothers both diagnosed with GBM. Both siblings underwent biopsy with debulking of the tumors by different surgeons. Only one sibling elected to undergo chemotherapy and radiation. Cytogenetic studies were possible only on one sibling and the tumor specimen revealed multiple chromosomal abnormalities, including triploidies 4, 8, 12, 22 and loss of heterozygosity of 1p, 9p, and 10. Histological samples for both tumors were similar, both revealing increased cellularity consisting of gemistocytic astrocytes, central necrosis, and microvascularization.Conclusion:We present two brothers who display a rare familial relationship in the development of their GBMs. Supplementary and improved genetic studies may allow for specific treatment modalities as certain genetic abnormalities have better response to tailored treatments and carry better prognoses.
By convention, the ascending aorta is measured by echo from leading edge to leading edge. “Leading edge” connotes the edge of the aortic wall that is closest to the probe (at the top of the inverted “V” of the ultrasound image). By transthoracic echo (TTE), the leading edges are the outer anterior wall and inner posterior wall. By transesophageal echo (TEE), the leading edges are the outer posterior wall and inner anterior wall. Aortic measurements should be taken (by convention) in diastole (when the aorta is moving least). Simple TTE is 70 to 85% sensitive in diagnosing ascending aortic dissection. TEE sensitivity approaches 100%, though the tracheal carina imposes a blind spot on TEE, impeding visualization of distal ascending aorta and proximal aortic arch. While computed tomography angiography may be superior for defining full anatomic extent of aortic dissection, echocardiography is superior in assessing functional consequences such as mechanism and severity of aortic regurgitation, evidence of myocardial ischemia when complicated by coronary dissection, or evidence of tamponade physiology when pericardial effusion is present. Reverberation artifact can mimic a dissection flap. A true flap moves independently of the outer aortic wall which can be confirmed by M-mode. Color flow respects a true flap but does not respect a reverberation artifact. Assessment for bicuspid aortic valve (BAV) morphology should be done in systole, not diastole. In diastole, when the valve is closed, the raphé can make a bicuspid valve appear trileaflet. Doming in the parasternal long axis (PLAX) view and an eccentric closure line on PLAX M-mode should also raise suspicion for BAV.
Background: Right ventricle (RV) evaluation requires dedicated imaging to achieve a comprehensive functional and anatomical assessment. Right ventricular imaging could be technically difficult which results in suboptimal visibility and inconsistent assessment between observers. The aim of this study was to assess feasibility and the additive value of contrast enhancement for right ventricular evaluation.Methods: Eighty patients referred for clinically indicated echocardiography studies were included. Patients with irregular rhythms were excluded. Dedicated RV-focused view was attained; RV dimensions measured, and RV segment visualization and wall motion were assessed with and without contrast enhancement. Paired sample t test was used to compare continuous variables, Wilcoxon signed-rank test to compare segments visualization on enhanced versus (vs) nonenhanced images, and Cohen kappa coefficient to assess the agreement of wall motion between two observers. Reproducibility was measured by the absolute mean difference method. Results:A total of 240 total segments of 80 patients were analyzed, and 178 (74%) were visible on unenhanced while 221 (92%) on enhanced images, P < .05. Further, RV measurements on enhanced images were consistently larger on RV focused, SAX, and RVOT. Inter-and intra-observer reproducibility showed a higher reproducibility with a lower bias on enhanced images. Absolute agreement on RV segmental wall motion between two independent observers was higher on enhanced images. Percent agreement was 78% on UE vs 89% on CE. Conclusion:Contrast RV imaging is feasible and improves RV segment visualization and inter-observer agreement. Compared with unenhanced images, RV measurements on contrast images are larger and more reproducible with lower bias. K E Y W O R D Scontrast echocardiography, contrast imaging, right ventricle, right ventricular function
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