Frequency of Chromosome Healing and Interstitial Telomeres in 40 Cases of Constitutional Abnormalities.

Human telomeres play a major role in stabilizing chromosome ends and preventing fusions. Chromosomes bearing a broken end are rescued by the acquisition of a new telomeric cap without any subtelomeric sequences being present at the breakpoint, a process referred to as chromosome healing. Conversely, a loss of telomeric function or integrity can lead to the presence of interstitial telomeres at the junction site in translocations or ring chromosomes. In order to determine the frequency at which interstitial telomeres or chromosome healing events are observed in target chromosome abnormalities, we conducted a retrospective FISH study using pan-telomeric and chromosome-specific subtelomeric probes on archival material from 40 cases of terminal deletions, translocations or ring chromosomes. Of the 19 terminal deletions investigated, 17 were negative for the subtelomeric probe specific to the deleted arm despite being positive for the pan-telomeric probe. These 17 cases were thus considered as been rescued through chromosome healing, suggesting that this process is frequent in terminal deletions. In addition, as two of these cases were inherited from a parent bearing the same deletion, chromosomes healed by this process are thus stable through mitosis and meiosis. Regarding the 13 cases of translocations and eight ring chromosomes, four and two cases respectively demonstrated pan-telomeric sequences at the interstitial junction point. Furthermore, two cases of translocations and one ring chromosome had both interstitial pan-telomeres and subtelomeres, whereas two other cases of ring chromosomes and one case of translocation only showed interstitial subtelomeres. Therefore, interstitial (sub)telomeric sequences in translocations and ring chromosomes are more common than previously thought, as we found a frequency of 43% in this study. Moreover, our results illustrate the necessity of performing FISH with both subtelomeric and pan-telomeric probes when investigating these rearrangements, as the breakpoints can be either in the distal part of the pan-telomeres, or in between the two types of sequences.

Structural and functional brain abnormalities in children with subclinical depression

Mémoire numérisé par la Division de la gestion de documents et des archives de l'Université de Montréal.

Cardiovascular and sensory abnormalities in a rat model of insulin resistance : beneficial effect of an antioxidant and an angiotensin-1 converting enzyme inhibitor

Mémoire numérisé par la Division de la gestion de documents et des archives de l'Université de Montréal.

Influence of experience and training on dental students’ examination performance regarding panoramic images.

Physician training has greatly benefitted from insights gained in understanding the manner in which experts search medical images for abnormalities. The aims of this study were to compare the search patterns of 30 fourth-year dental students and 15 certified oral and maxillofacial radiologists (OMRs) over panoramic images and to determine the most robust variables for future studies involving image visualization. Eye tracking was used to capture the eye movement patterns of both subject groups when examining 20 panoramic images classified as normal or abnormal. Abnormal images were further subclassified as having an obvious, intermediate, or subtle abnormality. The images were presented in random order to each participant, and data were collected on duration of the participants’ observations and total distance tracked, time to first eye fixation, and total duration and numbers of fixations on and off the area of interest (AOI). The results showed that the OMRs covered greater distances than the dental students (p<0.001) for normal images. For images of pathosis, the OMRs required less total time (p<0.001), made fewer eye fixations (p<0.01) with fewer saccades (p<0.001) than the students, and required less time before making the first fixation on the AOI (p<0.01). Furthermore, the OMRs covered less distance (p<0.001) than the dental students for obvious pathoses. For investigations of images of pathosis, time to first fixation is a robust parameter in predicting ability. For images with different levels of subtlety of pathoses, the number of fixations, total time spent, and numbers of revisits are important parameters to analyze when comparing observer groups with different levels of experience.