Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity

Mercan Sevcan,Akcakaya Nihan Hande,Salman Baris,Yapici Zuhal,Ozbek Ugur,Sibel Aylin Ugur Iseri 한국유전학회 2023 Genes & Genomics Vol.45 No.1

Background Syndromic intellectual disability (ID) with accompanying primary microcephaly is a group of rare neurodevelopmental disorders exhibiting extreme genetic and clinical heterogeneity. This layered heterogeneity can partially be resolved by unbiased genetic approaches targeting the genome with next generation sequencing (NGS) technologies, including exome sequencing (ES). Objective This study was performed to dissect the clinical and genetic features in five distinct IDM cases. Methods Singleton or trio ES approach followed by in-depth variant analysis using alternative inheritance models was performed. Results We have identified biallelic loss of function variants in genes WDR62 and AP4M1 in three families, together with de novo missense variants in genes SOX11 and TRIO in two families. ES based haplotype analysis in two cases upon identification of an identical WDR62 variant in the homozygous state in two cases was suggestive of a small shared haplotype of 0.1 Mb. Additionally, we have shown a paternal origin for the de novo variant in TRIO via a polymorphic tag SNP, which enlightens the mutational mechanism for this variant. Conclusion In populations with high parental consanguinity, an autosomal recessive inheritance pattern for data analysis is usually the most obvious choice. Therefore, heterozygous variants may be overlooked in standard NGS analyses in consanguineous families. Our findings underlie the importance of using multiple inheritance models in NGS data analysis.

Isothermal and non-isothermal viscoelastic flow of PTT fluid in lid-driven polar cavity

Mercan, Hatice,Atalik, Kunt 한국유변학회 2012 Korea-Australia rheology journal Vol.24 No.4

The isothermal and non-isothermal viscoelastic flow of Phan-Thien-Tanner (PTT) fluids is considered in lid-driven polar cavity geometry, using a numerical solution method with parameter continuation technique. Thermoelastic effects, in terms of elastic/elongational effects and viscous dissipation, are demonstrated by the changes in vortical structure, temperature/stress distributions and heat transfer characteristics in the curved cavity. Central vortex/maximum temperature location shifts are observed under elastic and elongational (strain hardening and strain softening/shear thinning) effects for isothermal and non-isothermal conditions. The growth in size and strength of a secondary vortex is denoted in the downstream stationary corner of the cavity for the viscoelastic fluid under strain hardening, which also introduces an increase in stress gradients. Viscous heating is observed with elongational effects near the central vortex in the cavity. Stress components and their gradients decrease under viscous dissipation. The changes in temperature field and heat transfer properties in the cavity are revealed.

Flow structure for Power-Law fluids in lid-driven arc-shape cavities

Mercan, Hatice,Atalik, Kunt 한국유변학회 2011 Korea-Australia rheology journal Vol.23 No.2

In this paper the lid-driven flow of a Power-Law fluid in arc-shape cavities is studied. Two different arc cavity cross sections are considered with arc angle ratios r=1/2 and r=1/3. The unsteady stream-function-vorticity formulation is adopted together with a Power-Law constitutive relation. Body-fitted coordinate transformation is applied to generate orthogonal computational grids. The equations are discretized in space using a second order finite difference numerical method. Time integration is performed using fourth order Runge-Kutta explicit scheme. The combined effects of inertia, shear thinning/shear thickening and curved geometry on the vortical structure and velocity profiles are shown. The results are compared to Newtonian fluid case. It is found that under inertia, shear thinning effects lead to the early formation and growth of secondary vortices in the curved cavity, however shear thickening has an opposite effect.

Real-time large-scale hybrid testing for seismic performance evaluation of smart structures

Mercan, Oya,Ricles, James,Sause, Richard,Marullo, Thomas Techno-Press 2008 Smart Structures and Systems, An International Jou Vol.4 No.5

Numerous devices exist for reducing or eliminating seismic damage to structures. These include passive dampers, semi-active dampers, and active control devices. The performance of structural systems with these devices has often been evaluated using numerical simulations. Experiments on structural systems with these devices, particularly at large-scale, are lacking. This paper describes a real-time hybrid testing facility that has been developed at the Lehigh University NEES Equipment Site. The facility enables real-time large-scale experiments to be performed on structural systems with rate-dependent devices, thereby permitting a more complete evaluation of the seismic performance of the devices and their effectiveness in seismic hazard reduction. The hardware and integrated control architecture for hybrid testing developed at the facility are presented. An application involving the use of passive elastomeric dampers in a three story moment resisting frame subjected to earthquake ground motions is presented. The experiment focused on a test structure consisting of the damper and diagonal bracing, which was coupled to a nonlinear analytical model of the remaining part of the structure (i.e., the moment resisting frame). A tracking indictor is used to track the actuator ability to achieve the command displacement during a test, enabling the quality of the test results to be assessed. An extension of the testbed to the real-time hybrid testing of smart structures with semi-active dampers is described.

Levoatrial Cardinal Vein: Occluder Embolization and Complication Management

Ilker Mercan,Muhammet Akyuz,Baris Guven,Onur Isik 대한흉부외과학회 2021 Journal of Chest Surgery (J Chest Surg) Vol.54 No.3

In rare cases, levoatrial cardinal vein may occur as an isolated condition without additional congenital anomalies. Depending on the direction and flow of the shunt, this pathology may produce symptoms; alternatively, it may be asymptomatic, as in the case presented in this study. In asymptomatic cases, complications, such as paradoxical embolism and brain abscess, can arise later. In the 11-year-old patient whose case is presented here, the levoatrial cardinal vein was asymptomatic and incidentally detected. The percutaneous closure method was applied first. However, by 16 hours after the procedure, the occluder device had embolized to the iliac artery. Emergency surgery was performed; first, the oc- cluder device was removed, and levoatrial cardinal vein ligation was then performed via a mini-thoracotomy. The symptoms, diagnosis, and treatment modalities of isolated levoatri- al cardinal vein are discussed in the context of this case described herein.

Isothermal and non-isothermal viscoelastic flow of PTT fluid in lid-driven polar cavity

Hatice Mercan,Kunt Atal k 한국유변학회 2012 Korea-Australia rheology journal Vol.24 No.4

The isothermal and non-isothermal viscoelastic flow of Phan-Thien-Tanner (PTT) fluids is considered in liddriven polar cavity geometry, using a numerical solution method with parameter continuation technique. Thermoelastic effects, in terms of elastic/elongational effects and viscous dissipation, are demonstrated by the changes in vortical structure, temperature/stress distributions and heat transfer characteristics in the curved cavity. Central vortex/maximum temperature location shifts are observed under elastic and elongational (strain hardening and strain softening/shear thinning) effects for isothermal and non-isothermal conditions. The growth in size and strength of a secondary vortex is denoted in the downstream stationary corner of the cavity for the viscoelastic fluid under strain hardening, which also introduces an increase in stress gradients. Viscous heating is observed with elongational effects near the central vortex in the cavity. Stress components and their gradients decrease under viscous dissipation. The changes in temperature field and heat transfer properties in the cavity are revealed.

Virtual Direction Multicast: An Efficient Overlay Tree Construction Algorithm

Suat Mercan,Murat Yuksel 한국통신학회 2016 Journal of communications and networks Vol.18 No.3

In this paper, we propose virtual direction multicast(VDM) for video multicast applications on peer-to-peer overlaynetworks. It locates the end hosts relative to each other based ona virtualized orientation scheme using real-time measurements. Itbuilds multicast tree by connecting the nodes, which are estimatedto be in the same virtual direction. By using the concept of directionality,we target to use minimal resources in the underlyingnetwork while satisfying users’ quality expectations. We compareVDMagainst host multicast tree protocol.We simulated the protocolin a network simulator and implemented in PlanetLab. Resultsboth fromsimulation and PlanetLab implementation show that ourproposed technique exhibits good performance in terms of definedmetrics.

Immunological mechanism of postherpetic neuralgia and effect of pregabalin treatment on the mechanism: a prospective single-arm observational study

( Aysel Mercan ),( Sema Tuncer Uzun ),( Sevgi Keles ),( Gulcin Hacibeyoglu ),( Resul Yilmaz ),( Ruhiye Reisli ) 대한통증학회 2021 The Korean Journal of Pain Vol.34 No.4

Background: Although neuropathic pain is a severe and common pain, its pathophysiology has not been elucidated yet. Studies in recent years have focused on the immune system’s role in the pathogenesis of neuropathic pain. The aim of this study was to investigate the role of immunological mechanisms in neuropathic pain and the effect of pregabalin by measuring immunological marker levels in peripheral blood before and after pregabalin treatment in postherpetic neuralgia (PHN) patients with neuropathic pain. Methods: Forty patients diagnosed with PHN were included in the study. CD4, T follicular cells (Tfh: CD4⁺CXCR5⁺PD1⁺), Th17 (CD4⁺CCR6⁺ and CD4⁺IL17A⁺), regulatory T cells (Treg: CD4⁺ CD25⁺foxp3⁺), Th1 (CD4⁺ CXCR3⁺ and CD4⁺ IFN-γ⁺) and Th2 (CD4⁺ IL-4⁺) cell ratios were measured in peripheral blood samples before treatment and after 3 months of treatment. Results: When immunological marker and inflammation parameter levels were compared before and after treatment, the helper T cell ratio (CD3⁺, CD4⁺) was 30.28 ± 12.27% before treatment and 34.93 ± 11.70% after treatment, so there was a statistically significant increase (P = 0.028). Th17 was 4.75 ± 5.02% before treatment and 5.80 ± 3.13% after treatment, and there was a statistically significant increase (P = 0.036). Conclusions: Immunological mechanisms play an essential role in the pathogenesis of neuropathic pain, immunologically based treatment approach will be the critical point of treatment.

Vibration of angle-ply laminated composite circular and annular plates

Kadir Mercan,Farzad Ebrahimi,Ömer Civale 국제구조공학회 2020 Steel and Composite Structures, An International J Vol.34 No.1

In the present paper, free vibration analysis of angle-ply laminated composite annular and circular plates is performed by numerical methods. First-order shear deformation plate theory is used for kinematic relations. The related governing equations of motion are discretized via differential quadrature and discrete singular convolution methods. Frequency values are obtained for different lamina scheme, thickness-to-radius ratio, and mode numbers. The advantages and accuracy of these two methods are also tested in detail.

Arc-length and explicit methods for static analysis of prestressed concrete members

Bulent Mercan,Henryk K. Stolarski,Arturo E. Schultz 사단법인 한국계산역학회 2016 Computers and Concrete, An International Journal Vol.18 No.1

This paper compares the arc-length and explicit dynamic solution methods for nonlinear finite element analysis of prestressed concrete members subjected to monotonically increasing loads. The investigations have been conducted using an L-shaped, prestressed concrete spandrel beam, selected as a highly nonlinear problem from the literature to give insight into the advantages and disadvantages of these two solution methods. Convergence problems, computational effort, and quality of the results were investigated using the commercial finite element package ABAQUS. The work in this paper demonstrates that a static analysis procedure, based on the arc-length method, provides more accurate results if it is able to converge on the solution. However, it experiences convergence problems depending upon the choice of mesh configuration and the selection of concrete post-cracking response parameters. The explicit dynamic solution procedure appears to be more robust than the arc-length method in the sense that it provides acceptable solutions in cases when the arc-length approach fails, however solution accuracy may be slightly lower and computational effort may be significantly larger. Furthermore, prestressing forces must be introduced into the finite element model in different ways for the explicit dynamic and arc-length solution procedures.