Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder

<p>Abstract</p> <p>Background</p> <p>Obsessive-compulsive disorder (OCD) is a clinically and etiologically heterogeneous syndrome. The high frequency of obsessive-compulsive symptoms reported in subjects with the 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) or Prader-Willi syndrome (15q11-13 deletion of the paternally derived chromosome), suggests that gene dosage effects in these chromosomal regions could increase risk for OCD. Therefore, the aim of this study was to search for microrearrangements in these two regions in OCD patients.</p> <p>Methods</p> <p>We screened the 15q11-13 and 22q11.2 chromosomal regions for genomic imbalances in 236 patients with OCD using multiplex ligation-dependent probe amplification (MLPA).</p> <p>Results</p> <p>No deletions or duplications involving 15q11-13 or 22q11.2 were identified in our patients.</p> <p>Conclusions</p> <p>Our results suggest that deletions/duplications of chromosomes 15q11-13 and 22q11.2 are rare in OCD. Despite the negative findings in these two regions, the search for copy number variants in OCD using genome-wide array-based methods is a highly promising approach to identify genes of etiologic importance in the development of OCD.</p

FLOW IN PARTIALLY CONSTRICTED PLANAR CHANNELS - ORIGINS OF VORTEX SHEDDING AND GLOBAL STABILITY OF NAVIER{STOKES SOLUTIONS

Vortex shedding is a well-known unsteady uid-dynamic phenomenon occur- ring in a variety of ows in nature including stenosed blood vessels. We nd that current hypotheses regarding the origin of vortex shedding do not apply for the inter- nal ow in a partially constricted two-dimensional channel. As a result, we postulate a novel mechanism to explain the origin of vortex splitting and shedding in this ge- ometry. Numerical simulations of the unsteady, two-dimensional, incompressible Navier{ Stokes equations are performed in a channel having a constriction modeled by a two- parameter Gaussian distribution on both channel walls. Reynolds numbers from 1 to 3000 based on inlet half-channel height and mean inlet velocity and constriction ratios of 0:25, 0:5 and 0:75 are considered. The Navier{Stokes solutions are observed to experience a number of bifurca- tions including unsteady behaviour with shear-layer uctuations and vortex shedding downstream of the constriction. A sequence of events is presented describing how a sustained shear layer instability leads to the unsteady vortex shedding phenomenon via a convective instability and a proposed streamwise pressure-gradient mechanism. In addition, a global linear stability analysis is performed on several station- ary Navier{Stokes solutions to determine the long-term temporal behavior of small amplitude perturbations. Finally, the implications of this research on the hemodynamics in the cephalic vein and potential failure of the brachiocephalic stula are addressed.Ph.D. in Mechanical Engineering, May 201