Effect of trinucleotide repeat expansion on the expression of TCF4 mRNA in Fuchs' endothelial corneal dystrophy

Purpose: CTG trinucleotide repeat (TNR) expansion is frequently found in transcription factor 4 (TCF4) in Fuchs' endothelial corneal dystrophy (FECD), though the effect of TNR expansion on FECD pathophysiology remains unclear. The purpose of this study was to evaluate the effect of TNR expansion on TCF4 expression in corneal endothelium of patients with FECD. Methods: Peripheral blood DNA and Descemet membrane with corneal endothelium were obtained from 203 German patients with FECD. The CTG TNR repeat length in TCF4 was determined by short tandem repeat (STR) assays and Southern blotting using genomic DNA. Genotyping of rs613872 in TCF4 was performed by PCR. TCF4 mRNA levels in corneal endothelium were evaluated by quantitative PCR using three different probes. Control corneal endothelial samples were obtained from 35 non-FECD subjects. Results: The STR assay and Southern blotting showed that 162 of the 203 patients with FECD (80%) harbored CTG trinucleotide repeat lengths larger than 50. Quantitative PCR using all three probes demonstrated that TCF4 mRNA is significantly upregulated in the corneal endothelium of patients with FECD, regardless of the presence of TNR expansion. However, the length of the TNR tended to show a positive correlation with TCF4 expression level. No correlation was shown between the genotype of TCF4 SNP, rs613872, and the level of TCF4 expression. Conclusions: Our findings showed that TCF4 mRNA is upregulated in the corneal endothelium of patients with FECD. Further studies on the effects of TCF4 upregulation on corneal endothelial cell function will aid in understanding the pathophysiology of FECD

High accuracy estimation technique of structural vibration by virtual sensing

Virtual sensing is a method to estimate unobservable or unmeasurable state variables by combining exsisting measurement data with model information. When FE model is applied to the virtual sensing, vibration response data estimated at all nodes. When it enables to estimate the vibration response data at all nodes, for example, it will be possible to simulate sound radiation from mechanical structure with the vibration response data. In this paper, it is illustrated how to estimate high accuracy vibration response data. It then examines the effect of excitation force on the vibration estimation results. Based on the results of this verification, a method to improve the accuracy of vibration response estimation is proposed. It also tests the relationship with accuracy of estimated vibration data and the difference between real and estimated location of excitation force. Finally, it tests how the quality of estimation for sound radiation

Parameter Identification for Vibro-Acoustic Systems by using Parametric Model Order Reduction

Numerical simulations, such as the finite element method, have been recently used to calculate and predict noise and vibration behavior. Unfortunately, finite element models have a discrepancy as compared to real systems because of erroneous boundary conditions or model parameters. In order to obtain accurate predictions, a good correspondence between the finite element model and real system are required. In this paper, model updating is performed for vibro-acoustic systems by comparing the numerically predicted and experimentally measured sound pressure. However, finite element models for vibro-acoustic simulations typically induce a high computational cost. In order to mitigate this computational cost, model order reduction is proposed to reduce the number of degrees of freedom while maintaining a desired accuracy. Since parameter dependency has to be taken into account during model updating, parametric model order reduction is performed. The resulting parametric reduced order model preserves the accuracy of the full order model and is used to identify several vibro-acoustic parameters through an inverse optimization procedure.status: publishe

A combination therapy for Kawasaki disease with severe complications: a case report

Kawasaki disease (KD) is a form of acute multisystem vasculitis that presents with various complications, including coronary artery aneurysm. Heart failure and brain damage are rare, but life-threatening complications are associated with KD. Here, we describe a 4-year-old girl who developed intravenous immunoglobulin-resistant KD with both left ventricular failure and acute encephalopathy. On day 8 of the illness, the low left ventricular ejection fraction, mitral regurgitation, and low blood pressure, which required continuous administration of dobutamine, were observed during the treatments for KD, including intravenous immunoglobulin. She also appeared unconscious, where the electroencephalogram showed slow waves of activity in all regions of the brain. The cardiac performance improved after she received plasma exchange for three days. However, her unconsciousness with slow waves of activity on electroencephalogram and fever continued after the plasma exchange. Therefore, she was treated with methylprednisolone pulse, followed by prednisolone, as well as intravenous immunoglobulin. Finally, she recovered without any cardiac or neurological sequelae not only at the time she was discharged, but also throughout the follow-up period. The combination therapy using plasma exchange and methylprednisolone pulse may be a treatment option for severe KD with left ventricular failure and acute encephalopathy complications

Study of the Fluence and LET Distribution of Projectile Fragments Produced from Heavy Ion Therapeutic Beams

The Fluence and LET spectra of each fragment particle are measured down to the Bragg peak energy region for carbon beams at HIMAC. The beams are formed to a therapeutic broad beam of 100 mm in diameter by means of the wobbler method. PMMA is used as atarget. A dE-E counter telescope equipped with a plastic scintillator and a BGO scintillator can identify the type of element for fragment particles. LET spectra are measured by a prportinal counter which is operated using P10 gas. Measured data are checked for accuracy by means of the following comparisons, depth dose distribution with the one measured by an ionization chamber, track averaged LET with calculation and total charge changing cross section of the primary particles with previous results. Fluence, dose averaged LET and dose composition as a function of water equivalent length are reported as a database for heavy ion radiotherapy.World Congress on Medical Physics and Biomedical Engineerin

Study of the Fluence and LET Distribution of Projectile Fragments Produced from Heavy Ion Therapeutic Beams

The Fluence and LET spectra of each fragment particle are measured down to the Bragg peak energy region for carbon beams at HIMAC. The beams are formed to a therapeutic broad beam of 100 mm in diameter by means of the wobbler method. PMMA is used as atarget. A dE-E counter telescope equipped with a plastic scintillator and a BGO scintillator can identify the type of element for fragment particles. LET spectra are measured by a prportinal counter which is operated using P10 gas. Measured data are checked for accuracy by means of the following comparisons, depth dose distribution with the one measured by an ionization chamber, track averaged LET with calculation and total charge changing cross section of the primary particles with previous results. Fluence, dose averaged LET and dose composition as a function of water equivalent length are reported as a database for heavy ion radiotherapy.World Congress on Medical Physics and Biomedical Engineerin

Carbon Films formed by ECR Plasma CVD Using a Slotted Lisitano Coil

Measurements are performed in an attempt to produce an ECR plasma of hydrogen and methane with a slotted Lisitano coil at high pressures, and then, to form carbon films on silicon wafers. It is shown that plasma parameters are radially uniform at pressures below 10 mTorr. The analysis of the films, performed by Raman scattering, X-ray diffraction, and so on, demonstrates that an ECR plasma produced with a slotted Lisitano coil is available for plasma CVD