Project description:To perform a saccadic response to a visual stimulus, a 'sensorimotor transformation' is required (i.e., transforming stimulus location into a motor command). Where in the brain is this accomplished? While previous monkey neurophysiology and human fMRI studies examined either parietal cortex or frontal eye field, we studied both of these regions simultaneously using magnetoencephalography (MEG). Nineteen healthy participants performed a pseudorandom series of prosaccades and antisaccades during MEG. Antisaccades require a saccade in the direction opposite a suddenly appearing stimulus. We exploited this dissociation between stimulus and saccadic direction to identify cortical regions that show early activity for a contralateral stimulus and late activity for a contralateral saccade. We found that in the left hemisphere both the intraparietal sulcus and the frontal eye field showed a pattern of activity consistent with sensorimotor transformation - a transition from activity reflecting the direction of the stimulus to that representing the saccadic goal. These findings suggest that sensorimotor transformation is the product of coordinated activity across the intraparietal sulcus and frontal eye field, key components of a cortical network for saccadic generation.
Project description:We report the rare case of a right aortic arch associated with agenesis of the left internal carotid artery. A 75-year-old woman with a medical history of tetralogy of Fallot presented with dizziness. Magnetic resonance angiography revealed agenesis of the left internal carotid artery in addition to a previously diagnosed right aortic arch. The left common carotid artery was present, but it was thin. Computed tomography showed the absence of the left carotid canal. The left anterior cerebral artery was fed via the anterior communicating artery. The left middle cerebral artery was fed via a thickened posterior communicating artery originating from the left posterior cerebral artery. Although a right aortic arch and agenesis of the internal carotid artery are both very rare, association of the two conditions may occur. Both anomalies depend on the abnormal regression of the dorsal aorta during embryonic development. In such a situation, the presence of other anomalies in the cardiac or central nervous system should be taken into consideration.
Project description:BackgroundThe immediate effect of aortic valve replacement (AVR) for aortic stenosis on perioperative myocardial function is unclear. Left ventricular (LV) function may be impaired by cardioplegia-induced myocardial arrest and ischemia-reperfusion injury, especially in patients with LV hypertrophy. Alternatively, LV function may improve when afterload is reduced after AVR. The right ventricle (RV), however, experiences cardioplegic arrest without benefiting from improved loading conditions. Which of these effects on myocardial function dominate in patients undergoing AVR for aortic stenosis has not been thoroughly explored. Our primary objective is thus to characterize the effect of intraoperative events on LV function during AVR using echocardiographic measures of myocardial deformation. Second, we evaluated RV function.MethodsIn this supplementary analysis of 100 patients enrolled in a clinical trial (NCT01187329), 97 patients underwent AVR for aortic stenosis. Of these patients, 95 had a standardized intraoperative transesophageal echocardiographic examination of systolic and diastolic function performed before surgical incision and repeated after chest closure. Echocardiographic images were analyzed off-line for global longitudinal myocardial strain and strain rate using 2D speckle-tracking echocardiography. Myocardial deformation assessed at the beginning of surgery was compared with the end of surgery using paired t tests corrected for multiple comparisons.ResultsLV volumes and arterial blood pressure decreased, and heart rate increased at the end of surgery. Echocardiographic images were acceptable for analysis in 72 patients for LV strain, 67 for LV strain rate, and 54 for RV strain and strain rate. In 72 patients with LV strain images, 9 patients required epinephrine, 22 required norepinephrine, and 2 required both at the end of surgery. LV strain did not change at the end of surgery compared with the beginning of surgery (difference: 0.7 [97.6% confidence interval, -0.2 to 1.5]%; P = 0.07), whereas LV systolic strain rate improved (became more negative) (-0.3 [-0.4 to -0.2] s; P < 0.001). In contrast, RV systolic strain worsened (became less negative) at the end of surgery (difference: 4.6 [3.1 to 6.0]%; P < 0.001) although RV systolic strain rate was unchanged (0.0 [97.6% confidence interval, -0.1 to 0.1]; P = 0.83).ConclusionsLV function improved after replacement of a stenotic aortic valve demonstrated by improved longitudinal strain rate. In contrast, RV function, assessed by longitudinal strain, was reduced.
Project description:We present a 31-year-old female with repaired tetralogy of Fallot (TOF) and right-sided aortic arch (RAA) with left-sided patent ductus arteriosus (PDA) originating from the left brachiocephalic artery. This is a rare finding but most common site for a PDA in TOF and a RAA. To the best of our knowledge, this is the first demonstration of this rare finding on MRI in the literature.
Project description:We present the case of a 17-year-old boy with anomalous aortic origin of a right coronary artery. Despite the absence of ischemia on noninvasive stress tests, invasive diagnostic procedures suggested that ischemia could be induced by a heavy workout in this patient with anomalous aortic origin of a right coronary artery with an interarterial course.
Project description:In the present article, we investigated the possibility of inducing phantom tactile sensations in healthy individuals similar to those that we observed in patients after stroke. On the basis of previous research, we assumed that manipulating visual feedbacks may guide and influence, under certain conditions, the phenomenal experience of touch. To this aim, we used the Tactile Quadrant Stimulation (TQS) test in which subjects, in the crucial condition, must indicate whether and where they perceive a double tactile stimulation applied simultaneously in different quadrants of the two hands (asymmetrical Double Simultaneous Stimulation trial, Asym-DSS). The task was performed with the left-hand out of sight and the right-hand reflected in a mirror so that the right-hand reflected in the mirror looks like the own left-hand. We found that in the Asym-DSS trial, the vision of the right-hand reflected in the mirror and stimulated by a tactile stimulus elicited on the left-hand the sensation of having been touched in the same quadrant as the right-hand. In other words, we found in healthy subjects the same phantom touch effect that we previously found in patients. We interpreted these results as modulation of tactile representation by bottom-up (multisensory integration of stimuli coming from the right real and the right reflected hand) and possibly top-down (body ownership distortion) processing triggered by our experimental setup, unveiling bilateral representation of touch.
Project description:BackgroundBicuspid aortic valve (BAV), the most common congenital heart defect affecting 1% to 2% of the population, is a major risk factor for premature aortic valve disease and accounts for the majority of valve replacement. The genetic basis and mechanisms of BAV etiology and pathogenesis remain largely undefined.MethodsCardiac structure and function was assessed in mice lacking a Gata6 allele. Human GATA6 gene variants were analyzed in 452 BAV cases from the BAV consortium and 1849 controls from the Framingham GWAS (Genome Wide Association Study). GATA6 expression was determined in mice and human tissues using quantitative real-time polymerase chain reaction and immunohistochemistry. Mechanistic studies were carried out in cultured cells.ResultsGata6 heterozygous mice have highly penetrant right-left (RL)-type BAV, the most frequent type in humans. GATA6 transcript levels are lower in human BAV compared with normal tricuspid valves. Mechanistically, Gata6 haploinsufficiency disrupts valve remodeling and extracellular matrix composition through dysregulation of important signaling molecules, including matrix metalloproteinase 9. Cell-specific inactivation of Gata6 reveals an essential role for GATA6 in secondary heart field myocytes because loss of 1 Gata6 allele from Isl- 1-positive cells-but not from endothelial or neural crest cells-recapitulates the phenotype of Gata6 heterozygous mice.ConclusionsThe data identify a new cellular and molecular mechanism underlying BAV. The availability of an animal model for the most frequent human BAV opens the way for the elucidation of BAV pathogenesis and the development of much needed therapies.
Project description:We describe the case of 35-year-old patient with known Marfan syndrome, and previously treated by a Bentall procedure, who presented with an aortic pseudoaneurysm secondary to a partial proximal left main coronary artery detachment fixed by covered stent implantation. (Level of Difficulty: Advanced.).