Brain morphology in children with 47, XYY syndrome: a voxel- and surface-based morphometric study.

The neurocognitive and behavioral profile of individuals with 47,XYY is increasingly documented; however, very little is known about the effect of a supernumerary Y-chromosome on brain development. Establishing the neural phenotype associated with 47,XYY may prove valuable in clarifying the role of Y-chromosome gene dosage effects, a potential factor in several neuropsychiatric disorders that show a prevalence bias toward males, including autism spectrum disorders. Here, we investigated brain structure in 10 young boys with 47,XYY and 10 age-matched healthy controls by combining voxel-based morphometry (VBM) and surface-based morphometry (SBM). The VBM results show the existence of altered gray matter volume (GMV) in the insular and parietal regions of 47,XYY relative to controls, changes that were paralleled by extensive modifications in white matter (WM) bilaterally in the frontal and superior parietal lobes. The SBM analyses corroborated these findings and revealed the presence of abnormal surface area and cortical thinning in regions with abnormal GMV and WMV. Overall, these preliminary results demonstrate a significant impact of a supernumerary Y-chromosome on brain development, provide a neural basis for the motor, speech and behavior regulation difficulties associated with 47,XYY and may relate to sexual dimorphism in these areas.

A centromere-specific retroviral element associated with breaks of synteny in macropodine marsupials.

Studies of chromosome evolution have focused heavily on the evolution of conserved syntenic, gene-rich domains. It is obvious, however, that the centromere plays an equally important role in chromosome evolution, through its involvement in fissions, centric fusions, translocations, inversions and centric shifts. It is unclear how the centromere, either as a functioning unit of the chromosome or as a DNA sequence motif, has been involved in these processes. Marsupials of the family Macropodidae (kangaroos, wallabies, rat kangaroos and potoroos) offer unique insights into current theories expositing centromere emergence during karyotypic diversification and speciation. Tracing the genomic distribution of centromeric sequences in a model macropodine (subfamily Macropodinae: kangaroos and wallabies) species, Macropus eugenii (tammar wallaby), indicates these sequences have played an important role in chromosome evolution through possible segmental duplications associated with phylogenetically conserved breaks of synteny, pericentromeric and subtelomeric regions. Hybrids between different kangaroo species provide evidence that the centromere is unstable within this group of mammals and is involved in a large number of chromosome aberrations. A better understanding of the genetic and epigenetic factors that define centromeres and how centromeres may mediate changes in chromosome architecture are critical not only to our understanding of basic cellular functioning but also to our understanding of the process of speciation.

Echocardiographic evaluation of left ventricular function during coronary artery angioplasty.

Balloon occlusion of a stenotic coronary artery during percutaneous coronary artery angioplasty provides a unique opportunity to study the effect of acute myocardial ischemia on left ventricular (LV) function. Simultaneous M-mode and 2-dimensional (2-D) echocardiograms and a 6-lead electrocardiogram were recorded during 20 episodes of coronary artery occlusion and release in 12 patients. No patient had previous myocardial infarction and all had normal LV function by angiography. All patients had isolated single coronary artery disease, with left anterior descending stenosis in 8 and right coronary stenosis in 4. In 18 of 20 episodes (90%), M-mode echocardiography during balloon occlusion revealed a significant (p less than 0.001) decrease in LV systolic, diastolic and percent systolic wall thickness; systolic excursion; systolic and diastolic endocardial velocities; and fractional shortening. These changes were observed in the area of the ventricular septum in patients with left anterior descending occlusion and posteroinferior wall in those with right coronary artery occlusion. Two-dimensional echocardiography revealed varying degrees of hypokinesia, akinesia and dyskinesia during balloon occlusion in 18 instances. The echocardiographic changes were observed within 15 to 20 seconds of balloon occlusion and resolved 10 to 20 seconds after balloon deflation. All patients who had echocardiographic changes during balloon occlusion also had concomitant electrocardiographic (ECG) ST-segment elevation, whereas 2 patients with normal LV function had no ECG changes. Both of these patients had profuse collateral blood supply to the stenotic coronary artery. The echocardiographic and ECG abnormalities increased proportionately to the length of balloon occlusion. This study confirms previous animal and recent human studies of transient LV dysfunction during coronary occlusion.(ABSTRACT TRUNCATED AT 250 WORDS)