ALBERT

Description: by Chun-An Chen, Meng-Yao Lu, Shinn-Forng Peng, Kai-Hsin Lin, Hsiu-Hao Chang, Yung-Li Yang, Shiann-Tarng Jou, Dong-Tsamn Lin, Yen-Bin Liu, Herng-Er Horng, Hong-Chang Yang, Jou-Kou Wang, Mei-Hwan Wu, Chau-Chung Wu Background Patients with transfusion-dependent beta-thalassemia major (TM) are at risk for myocardial iron overload and cardiac complications. Spatial repolarization heterogeneity is known to be elevated in patients with certain cardiac diseases, but little is known in TM patients. The purpose of this study was to evaluate spatial repolarization heterogeneity in patients with TM, and to investigate the relationships between spatial repolarization heterogeneity, cardiac iron load, and adverse cardiac events. Methods and Results Fifty patients with TM and 55 control subjects received 64-channel magnetocardiography (MCG) to determine spatial repolarization heterogeneity, which was evaluated by a smoothness index of QT c (SI-QT c ), a standard deviation of QT c (SD-QT c ), and a QT c dispersion. Left ventricular function and myocardial T2* values were assessed by cardiac magnetic resonance. Patients with TM had significantly greater SI-QT c , SD-QT c , and QT c dispersion compared to the control subjects (all p values

Description: by Yung-Li Yang, Ching-Tzu Yen, Chen-Hsueh Pai, Hsuan-Yu Chen, Sung-Liang Yu, Chien-Yu Lin, Chung-Yi Hu, Shiann-Tarng Jou, Dong-Tsamn Lin, Shu-Rung Lin, Shu-Wha Lin Childhood acute lymphoblastic leukemia (ALL) with t(12;21), which results in expression of the ETV6 / RUNX1 fusion gene, is the most common chromosomal lesion in precursor-B (pre-B) ALL. We identified 17 microRNAs that were downregulated in ETV6/RUNX1 + compared with ETV6/RUNX1 − clinical samples. Among these microRNAs, miR-181a-1 was the most significantly reduced (by ~75%; P 〈 0.001). Using chromatin immunoprecipitation, we demonstrated that ETV6/RUNX1 directly binds the regulatory region of MIR181A1 , and knockdown of ETV6 / RUNX1 increased miR-181a-1 level. We further showed that miR-181a (functional counterpart of miR-181a-1) could target ETV6/RUNX1 and cause a reduction in the level of the oncoprotein ETV6/RUNX1 , cell growth arrest, an increase in apoptosis, and induction of cell differentiation in ETV6/RUNX1 + cell line. Moreover, ectopic expression of miR-181a also resulted in decreased CD10 hyperexpression in ETV6/RUNX1 + primary patient samples. Taken together, our results demonstrate that MIR181A1 and ETV6/RUNX1 regulate each other, and we propose that a double negative loop involving MIR181A1 and ETV6/RUNX1 may contribute to ETV6/RUNX1 -driven arrest of differentiation in pre-B ALL.

Description: by Daniel Lonic, Betty Chien-Jung Pai, Kazuaki Yamaguchi, Peerasak Chortrakarnkij, Hsiu-Hsia Lin, Lun-Jou Lo Background Although conventional two-dimensional (2D) methods for orthognathic surgery planning are still popular, the use of three-dimensional (3D) simulation is steadily increasing. In facial asymmetry cases such as in cleft lip/palate patients, the additional information can dramatically improve planning accuracy and outcome. The purpose of this study is to investigate which parameters are changed most frequently in transferring a traditional 2D plan to 3D simulation, and what planning parameters can be better adjusted by this method. Patients and Methods This prospective study enrolled 30 consecutive patients with cleft lip and/or cleft palate (mean age 18.6±2.9 years, range 15 to 32 years). All patients received two-jaw single-splint orthognathic surgery. 2D orthodontic surgery plans were transferred into a 3D setting. Severe bony collisions in the ramus area after 2D plan transfer were noted. The position of the maxillo-mandibular complex was evaluated and eventually adjusted. Position changes of roll, midline, pitch, yaw, genioplasty and their frequency within the patient group were recorded as an alternation of the initial 2D plan. Patients were divided in groups of no change from the original 2D plan and changes in one, two, three and four of the aforementioned parameters as well as subgroups of unilateral, bilateral cleft lip/palate and isolated cleft palate cases. Postoperative OQLQ scores were obtained for 20 patients who finished orthodontic treatment. Results 83.3% of 2D plans were modified, mostly concerning yaw (63.3%) and midline (36.7%) adjustments. Yaw adjustments had the highest mean values in total and in all subgroups. Severe bony collisions as a result of 2D planning were seen in 46.7% of patients. Possible asymmetry was regularly foreseen and corrected in the 3D simulation. Conclusion Based on our findings, 3D simulation renders important information for accurate planning in complex cleft lip/palate cases involving facial asymmetry that is regularly missed in conventional 2D planning.

Description: by Sonia Paco, Susana G. Kalko, Cristina Jou, María A. Rodríguez, Joan Corbera, Francesco Muntoni, Lucy Feng, Eloy Rivas, Ferran Torner, Francesca Gualandi, Anna M. Gomez-Foix, Anna Ferrer, Carlos Ortez, Andrés Nascimento, Jaume Colomer, Cecilia Jimenez-Mallebrera

Description: by Sonia Paco, Teresa Casserras, Maria Angels Rodríguez, Cristina Jou, Montserrat Puigdelloses, Carlos I. Ortez, Jordi Diaz-Manera, Eduardo Gallardo, Jaume Colomer, Andrés Nascimento, Susana G. Kalko, Cecilia Jimenez-Mallebrera Background Collagen VI related myopathies encompass a range of phenotypes with involvement of skeletal muscle, skin and other connective tissues. They represent a severe and relatively common form of congenital disease for which there is no treatment. Collagen VI in skeletal muscle and skin is produced by fibroblasts. Aims & Methods In order to gain insight into the consequences of collagen VI mutations and identify key disease pathways we performed global gene expression analysis of dermal fibroblasts from patients with Ullrich Congenital Muscular Dystrophy with and without vitamin C treatment. The expression data were integrated using a range of systems biology tools. Results were validated by real-time PCR, western blotting and functional assays. Findings We found significant changes in the expression levels of almost 600 genes between collagen VI deficient and control fibroblasts. Highly regulated genes included extracellular matrix components and surface receptors, including integrins, indicating a shift in the interaction between the cell and its environment. This was accompanied by a significant increase in fibroblasts adhesion to laminin. The observed changes in gene expression profiling may be under the control of two miRNAs, miR-30c and miR-181a, which we found elevated in tissue and serum from patients and which could represent novel biomarkers for muscular dystrophy. Finally, the response to vitamin C of collagen VI mutated fibroblasts significantly differed from healthy fibroblasts. Vitamin C treatment was able to revert the expression of some key genes to levels found in control cells raising the possibility of a beneficial effect of vitamin C as a modulator of some of the pathological aspects of collagen VI related diseases.

Description: by Chengzhen Liu, Zhiyi Sun, Jerwen Jou, Qian Cui, Guang Zhao, Jiang Qiu, Shen Tu Although a few studies have investigated the integration between some types of unconscious stimuli, no research has yet explored the integration between unconscious emotional stimuli. This study was designed to provide behavioral evidence for the integration between unconsciously perceived emotional faces (same or different valence relation) using a modified priming paradigm. In two experiments, participants were asked to decide whether two faces in the target, which followed two subliminally presented faces of same or different emotional expressions, were of the same or different emotional valence. The interstimulus interval (ISI) between the prime and the target was manipulated (0, 53, 163 ms). In Experiment 1, prime visibility was assessed post-experiment. In Experiment 2, it was assessed on each trial. Interestingly, in both experiments, unconsciously processed valence relation of the two faces in the prime generated a negative priming effect in the response to the supraliminally presented target, independent of the length of ISI. Further analyses suggested that the negative priming was probably caused by a motor response incongruent relation between the subliminally perceived prime and the supraliminally perceived target. The visual feature incongruent relation across the prime and target was not found to play a role in the negative priming. Because the negative priming was found at short ISI, an attention mechanism as well as a motor inhibition mechanism were proposed in the generation of the negative priming effect. Overall, this study indicated that the subliminal valence relation was processed, and that integration between different unconsciously perceived stimuli could occur.

Description: by Wei-Sheng Wu, Yen-Chen Hsieh, Fu-Jou Lai In eukaryotes, the precise transcriptional control of gene expression is typically achieved through combinatorial regulation using cooperative transcription factors (TFs). Therefore, a database which provides regulatory associations between cooperative TFs and their target genes is helpful for biologists to study the molecular mechanisms of transcriptional regulation of gene expression. Because there is no such kind of databases in the public domain, this prompts us to construct a database, called Yeast Combinatorial Regulation Database (YCRD), which deposits 434,197 regulatory associations between 2535 cooperative TF pairs and 6243 genes. The comprehensive collection of more than 2500 cooperative TF pairs was retrieved from 17 existing algorithms in the literature. The target genes of a cooperative TF pair (e.g. TF1-TF2) are defined as the common target genes of TF1 and TF2, where a TF’s experimentally validated target genes were downloaded from YEASTRACT database. In YCRD, users can (i) search the target genes of a cooperative TF pair of interest, (ii) search the cooperative TF pairs which regulate a gene of interest and (iii) identify important cooperative TF pairs which regulate a given set of genes. We believe that YCRD will be a valuable resource for yeast biologists to study combinatorial regulation of gene expression. YCRD is available at http://cosbi.ee.ncku.edu.tw/YCRD/ or http://cosbi2.ee.ncku.edu.tw/YCRD/.

Description: by Hsiu-Hsia Lin, Ya-Fang Chuang, Jing-Ling Weng, Lun-Jou Lo Background Three-dimensional computed tomographic imaging has become popular in clinical evaluation, treatment planning, surgical simulation, and outcome assessment for maxillofacial intervention. The purposes of this study were to investigate whether there is any correlation among landmark-based horizontal reference planes and to validate the reproducibility and reliability of landmark identification. Materials and Methods Preoperative and postoperative cone-beam computed tomographic images of patients who had undergone orthognathic surgery were collected. Landmark-oriented reference planes including the Frankfort horizontal plane (FHP) and the lateral semicircular canal plane (LSP) were established. Four FHPs were defined by selecting 3 points from the orbitale, porion, or midpoint of paired points. The LSP passed through both the lateral semicircular canal points and nasion. The distances between the maxillary or mandibular teeth and the reference planes were measured, and the differences between the 2 sides were calculated and compared. The precision in locating the landmarks was evaluated by performing repeated tests, and the intraobserver reproducibility and interobserver reliability were assessed. Results A total of 30 patients with facial deformity and malocclusion—10 patients with facial symmetry, 10 patients with facial asymmetry, and 10 patients with cleft lip and palate—were recruited. Comparing the differences among the 5 reference planes showed no statistically significant difference among all patient groups. Regarding intraobserver reproducibility, the mean differences in the 3 coordinates varied from 0 to 0.35 mm, with correlation coefficients between 0.96 and 1.0, showing high correlation between repeated tests. Regarding interobserver reliability, the mean differences among the 3 coordinates varied from 0 to 0.47 mm, with correlation coefficients between 0.88 and 1.0, exhibiting high correlation between the different examiners. Conclusions The 5 horizontal reference planes were reliable and comparable for 3D craniomaxillofacial analysis. These reference planes were useful in standardizing the orientation of 3D skull models.

Description: by Jehn-Hsiahn Yang, Chin-Der Chen, Shee-Uan Chen, Yu-Shih Yang, Mei-Jou Chen Background An endometrial polyp is a frequently encountered gynecologic disease with abnormal uterine bleeding and infertility being the two common presenting problems, and hysteroscopic polypectomy is an effective method to remove them. The postoperative polyp recurrence might result in reappearance of abnormal uterine bleeding or infertility, whereas factors influencing the postoperative recurrence potential have limited data. Methods This case-series report included 168 premenopausal women who suffered from endometrial polyps and underwent hysteroscopic polypectomy. All of them were awaiting a future pregnancy. Office hysteroscopy was done before and after hysteroscopic polypectomy, in which preoperative hysteroscopy examined the number, type, and location of endometrial polyps, and postoperative hysteroscopy checked the polyp recurrence. Surgical indications, either infertility or the presentation of abnormal uterine bleeding, and follow-up duration were recorded. Results Seventy-three out of 168 (43%) women had polyp recurrence after hysteroscopic polypectomy. Multivariate logistic regression analysis revealed that more endometrial polyps ( P = 0.015) and longer duration of follow-up ( P = 0.004) were significantly associated with an increased risk of postoperative polyp recurrence. The type of endometrial polyps was not correlated with polyp recurrence potential, whereas pedunculated type endometrial polyps were closely related to the presentation of abnormal uterine bleeding ( P = 0.001). Conclusions A higher number of endometrial polyps and longer follow-up duration are associated with a greater potential of polyp recurrence after hysteroscopic polypectomy.

Description: by Hadi Kooshiar, Nurizan Yahaya, Tengku Aizan Hamid, Asnarulkhadi Abu Samah, Vajiheh Sedaghat Jou Background This cross-sectional and correlational survey examines the association between different types of living arrangements and life satisfaction in older Malaysians, while taking into account the mediating effects of social support function. Methodology and Findings A total of 1880 of older adults were selected by multistage stratified sampling. Life satisfaction and social support were measured with the Philadelphia Geriatric Center Morale Scale and Medical Outcomes Study Social Support Survey. The result shows living with children as the commonest type of living arrangement for older adults in peninsular Malaysia. Compared to living alone, living only with a spouse especially and then co-residency with children were both associated with better life satisfaction (p