Xantogranuloma juvenil gigante: acometimento palpebral difuso e simultâneo / Giant Juvenile Xanthogranuloma: diffuse and simultaneous palpebral involvement

O xantogranuloma juvenil (XGJ) é um tumor benigno e o mais comum do grupo das doenças histiocitárias proliferativas nãoLangerhans. Lesões; 2cm são consideradas XGJ gigantes, com relatos de lesões de até 18cm. Lesões oculopalpebrais podem necessitar de tratamento cirúrgico para controle de sintomas. Esse trabalho relata o caso de um menino de 8 anos que teve as 4 pálpebras acometidas por XGJ gigantes, além do terço médio. Ele foi submetido a 3 ressecções, sendo uma bastante profunda, necessitando enxerto de pele de espessura total diretamente sobre o músculo levantador da pálpebra superior. Posteriormente, 3 procedimentos de lipoenxertia foram realizados, atingindo resultado funcional e estético adequado, sem recorrência lesional.

Juvenile xanthogranuloma (JXG) is the most common benign tumor of the group of non-Langerhans histiocytic proliferative diseases. Lesions >2 cm are considered giant JXG, with reports of lesions of up to 18 cm. Oculopalpebral lesions may require surgical treatment to control symptoms. This study reports a case of an 8-year-old boy who had four eyelids and the middle third of the face affected by giant JXG. He underwent three resections, one of which was of great depth that required a full-thickness skin graft directly on the levator palpebrae superioris muscle. Subsequently, four fat-grafting procedures were performed and adequate functional and

Relations Between Aortic Stiffness and Left Ventricular Mechanical Function in the Community.

BACKGROUND: Aortic stiffness impairs optimal ventricular-vascular coupling and left ventricular systolic function, particularly in the long axis. Left ventricular global longitudinal strain (GLS) has recently emerged as a sensitive measure of early cardiac dysfunction. In this study, we investigated the relation between aortic stiffness and GLS in a large community-based sample. METHODS AND RESULTS: In 2495 participants (age 39-90 years, 57% women) of the Framingham Offspring and Omni cohorts, free of cardiovascular disease, we performed tonometry to measure arterial hemodynamics and echocardiography to assess cardiac function. Aortic stiffness was evaluated as carotid-femoral pulse wave velocity and as characteristic impedance, and GLS was calculated using speckle tracking-based measurements. In multivariable analyses adjusting for age, sex, height, systolic blood pressure, augmentation index, left ventricular structure, and additional cardiovascular risk factors, increased carotid-femoral pulse wave velocity (B±SE: 0.122±0.030% strain per SD, P<0.0001) and characteristic impedance (0.090±0.029, P=0.002) were both associated with worse GLS. We observed effect modification by sex on the relation between characteristic impedance and GLS (P=0.004); in sex-stratified multivariable analyses, the relation between greater characteristic impedance and worse GLS persisted in women (0.145±0.039, P=0.0003) but not in men (P=0.73). CONCLUSIONS: Multiple measures of increased aortic stiffness were cross-sectionally associated with worse GLS after adjusting for hemodynamic variables. Parallel reductions in left ventricular long axis shortening and proximal aortic longitudinal strain in individuals with a stiffened proximal aorta, from direct mechanical ventricular-vascular coupling, offers an alternative explanation for the observed relations.

Influence of vascular function and pulsatile hemodynamics on cardiac function.

Interactions between cardiac and vascular structure and function normally are optimized to ensure delivery of cardiac output with modest pulsatile hemodynamic overhead. Aortic stiffening with age or disease impairs optimal ventricular-vascular coupling, increases pulsatile load, and contributes to left ventricular (LV) hypertrophy, reduced systolic function, and impaired diastolic relaxation. Aortic pulse pressure and timing of peak systolic pressure are well-known measures of hemodynamic ventricular-vascular interaction. Recent work has elucidated the importance of direct, mechanical coupling between the aorta and the heart. LV systolic contraction results in displacement of aortic and mitral annuli, thereby producing longitudinal stretch in the ascending aorta and left atrium, respectively. Force associated with longitudinal stretch increases systolic load on the LV. However, the resulting energy stored in the elastic elements of the proximal aorta during systole facilitates early diastolic LV recoil and rapid filling. This review discusses current views on hemodynamics and mechanics of ventricular-vascular coupling.

Relations between aortic stiffness and left ventricular structure and function in older participants in the Age, Gene/Environment Susceptibility--Reykjavik Study.

BACKGROUND: Left ventricular (LV) contraction displaces the aortic annulus and produces a force that stretches the ascending aorta. We hypothesized that aortic stiffening increases this previously ignored component of LV load and may contribute to hypertrophy. Conversely, aortic stretch-related work represents stored energy that may facilitate early diastolic filling. METHODS AND RESULTS: We performed MRI of the aorta and LV in 347 participants (72-91 years old, 189 women) in the Age, Gene/Environment Susceptibility-Reykjavik Study to examine relations of aortic stretch with LV structure and function. Aortic stiffness was evaluated as the product of Young's modulus and aortic wall thickness. Force was computed from Young's modulus and longitudinal aortic strain; work was the integrated product of force and annulus displacement during systole. LV mass and dynamic volume were measured using the area-length method. Filling was assessed from time-resolved LV volume curves. In multivariable models that adjusted for age, sex, height, weight, end-diastolic LV volume, augmentation index, end-systolic pressure, and cardiovascular disease risk factors, higher aortic stiffness was associated with increased LV mass (ß=3.0±0.8% per SD, P<0.001; sex interaction, P=0.8). Greater stretch-related aortic work was associated with enhanced early filling in men (ß=4.0±0.8 mL/SD; P<0.001), but not in women (ß=-0.4±0.7 mL/SD; P=0.6). CONCLUSIONS: Higher aortic stiffness was associated with higher LV mass, independently of pressure. Higher stretch-related work was associated with greater early diastolic filling in men only. Impaired diastolic recovery of energy stored by systolic proximal aortic stretch may contribute to increased susceptibility to diastolic dysfunction in women.

Longitudinal and circumferential strain of the proximal aorta.

BACKGROUND: Accurate assessment of mechanical properties of the proximal aorta is a requisite first step for elucidating the pathophysiology of isolated systolic hypertension. During systole, substantial proximal aortic axial displacement produces longitudinal strain, which we hypothesize causes variable underestimation of ascending aortic circumferential strain compared to values in the longitudinally constrained descending aorta. METHODS AND RESULTS: To assess effects of longitudinal strain, we performed magnetic resonance imaging in 375 participants (72 to 94 years old, 204 women) in the Age, Gene/Environment Susceptibility­Reykjavik Study and measured aortic circumferential and longitudinal strain. Circumferential ascending aortic area strain uncorrected for longitudinal strain was comparable in women and men (mean [95% CI], 8.3 [7.8, 8.9] versus 7.9 [7.4, 8.5]%, respectively, P=0.3). However, longitudinal strain was greater in women (8.5±2.5 versus 7.0±2.5%, P<0.001), resulting in greater longitudinally corrected circumferential ascending aortic strain (14.4 [13.6, 15.2] versus 13.0 [12.4, 13.7]%, P=0.010). Observed circumferential descending aortic strain, which did not require correction (women: 14.0 [13.2, 14.8], men: 12.4 [11.6, 13.2]%, P=0.005), was larger than uncorrected (P<0.001), but comparable to longitudinally corrected (P=0.12) circumferential ascending aortic strain. Carotid­femoral pulse wave velocity did not correlate with uncorrected ascending aortic strain (R=−0.04, P=0.5), but was inversely related to longitudinally corrected ascending and observed descending aortic strain (R=−0.15, P=0.004; R=−0.36, P<0.001, respectively). Longitudinal strain was also inversely related to carotid­femoral pulse wave velocity and other risk factors for higher aortic stiffness including treated hypertension. CONCLUSIONS: Longitudinal strain creates substantial and variable errors in circumferential ascending aortic area strain measurements, particularly in women, and should be considered to avoid misclassification of ascending aortic stiffness.

Pulse pressure relation to aortic and left ventricular structure in the Age, Gene/Environment Susceptibility (AGES)-Reykjavik Study.

High pulse pressure, a major cardiovascular risk factor, has been attributed to medial elastic fiber degeneration and aortic dilation, which transfers hemodynamic load to stiffer collagen. However, recent studies suggest higher pulse pressure is instead associated with smaller aortic diameter. Thus, we sought to elucidate relations of pulse pressure with aortic stiffness and aortic and cardiac dimensions. We used magnetic resonance imaging to examine relationships of pulse pressure with lumen area and wall stiffness and thickness in the thoracic aorta and left ventricular structure in 526 participants (72-94 years of age, 295 women) in the community-based Age, Gene/Environment Susceptibility-Reykjavik Study. In a multivariable model that adjusted for age, sex, height, weight, and standard vascular risk factors, central pulse pressure had a negative relationship with aortic lumen area (all effects expressed as mm Hg/SD; B=-8.1±1.2; P<0.001) and positive relationships with left ventricular end-diastolic volume (B=3.8±1.0; P<0.001), carotid-femoral pulse wave velocity (B=3.6±1.0; P<0.001), and aortic wall area (B=3.0±1.2; P=0.015). Higher pulse pressure in older people is associated with smaller aortic lumen area and greater aortic wall stiffness and thickness and left ventricular volume. Relationships of larger ventricular volume and smaller aortic lumen with higher pulse pressure suggest mismatch in hemodynamic load accommodation by the heart and aorta in older people.

Effects of ethanol exposure on nervous system development in zebrafish.

Alcohol (ethanol) is a teratogen that adversely affects nervous system development in a wide range of animal species. In humans numerous congenital abnormalities arise as a result of fetal alcohol exposure, leading to a spectrum of disorders referred to as fetal alcohol spectrum disorder (FASD). These abnormalities include craniofacial defects as well as neurological defects that affect a variety of behaviors. These human FASD phenotypes are reproduced in the rodent central nervous system (CNS) following prenatal ethanol exposure. While the study of ethanol effects on zebrafish development has been more limited, several studies have shown that different strains of zebrafish exhibit differential susceptibility to ethanol-induced cyclopia, as well as behavioral deficits. Molecular mechanisms underlying the effects of ethanol on CNS development also appear to be shared between rodent and zebrafish. Thus, zebrafish appear to recapitulate the observed effects of ethanol on human and mouse CNS development, indicating that zebrafish can serve as a complimentary developmental model system to study the molecular basis of FASD. Recent studies examining the effect of ethanol exposure on zebrafish nervous system development are reviewed, with an emphasis on attempts to elucidate possible molecular pathways that may be impacted by developmental ethanol exposure. Recent work from our laboratories supports a role for perturbed extracellular matrix function in the pathology of ethanol exposure during zebrafish CNS development. The use of the zebrafish model to assess the effects of ethanol exposure on adult nervous system function as manifested by changes in zebrafish behavior is also discussed.