Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. In this study, we report five patients harbouring biallelic variants of TTLL5. Four adult patients presented either COD or CORD with onset in the late teenage years. The youngest patient had a phenotype of early onset severe retinal dystrophy (EOSRD). Genetic analysis was performed by targeted next generation sequencing of gene panels and assessment of copy number variants (CNV). We identified eight variants, of which six were novel, including two large multiexon deletions in patients with COD or CORD, while the EOSRD patient harboured the novel homozygous p.(Trp640*) variant and three distinct USH2A variants, which might explain the observed rod involvement. Our study highlights the role of TTLL5 in COD/CORD and the importance of large deletions. These findings suggest that COD or CORD patients lacking variants in known genes may harbour CNVs to be discovered in TTLL5, previously undetected by classical sequencing methods. In addition, variable phenotypes in TTLL5-associated patients might be due to the presence of additional gene defects.     

A decision support system for coating selection based on fuzzy logic and multi-criteria decision making

Wear and corrosion are the most important factors that the surface of the engineering parts must confront. The need for protection and improvement of the mechanical characteristics of the surface of engineering parts can be to some extent satisfied by coatings. Coatings are considered as an excellent solution when resistance to corrosion, oxidation or low friction is demanded, but due the complexity of selecting the appropriate one, engineers often avoid them. The need for simultaneous consideration of qualitative and quantitative properties, render the use of classic material selection theories inadequate. An expert system for coating selection is presented in this paper, which can handle both qualitative and quantitative variables. The mathematical model used combines the multi-criteria decision making theories (MCDM) together with the fuzzy sets theory. The “Max-Min set” method is applied to calculate the ordering value of the alternatives while the TOPSIS method is used to rank them. A numerical example is provided to illustrate the method. Finally, the process presented can be easily computerized, to create the relative software.     

Unique and common mechanisms of change across cognitive and dynamic psychotherapies.

The goal of this article was to examine theoretically important mechanisms of change in psychotherapy outcome across different types of treatment. Specifically, the role of gains in self-understanding, acquisition of compensatory skills, and improvements in views of the self were examined. A pooled study database collected at the University of Pennsylvania Center for Psychotherapy Research, which includes studies conducted from 1995 to 2002 evaluating the efficacy of cognitive and psychodynamic therapies for a variety of disorders, was used. Patient samples included major depressive disorder, generalized anxiety disorder, panic disorder, borderline personality disorder, and adolescent anxiety disorders. A common assessment battery of mechanism and outcome measures was given at treatment intake, termination, and 6-month follow-up for all 184 patients. Improvements in self-understanding, compensatory skills, and views of the self were all associated with symptom change across the diverse psychotherapies. Changes in self-understanding and compensatory skills across treatment were predictive of follow-up symptom course. Changes in self-understanding demonstrated specificity of change to dynamic psychotherapy. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

The use of ICT in primary schools within emerging communities of implementation

To illustrate the conditions under which successful innovation adoption takes place, this paper focuses on the implementation of information and communication technologies (ICT) through emerging communities in schools. Two types of such communities are described in terms of the degree of participation in the implementation: school-wide communities and enclaves. The article describes implementation practices in four primary schools with reported high ICT use, selected as case-studies. Four criteria, reflecting the domain, personnel relationships, policy and implementation goals and strategies, as well as staff consistency, are employed to outline the existence and types of communities of implementation within these schools. Findings indicate that, although both school-wide communities and enclaves are present in successful schools, enclaves – compared to school-wide communities – are related to lower levels of implementation. Based on these findings the authors discuss policy directions towards the development of school-wide communities as a purposeful implementation strategy to help transition ICT institutionalization from the initiation to the habitualization stage.     

A Review of the Effectiveness of CPS Training: A Focus on Workplace Issues

A major focus within the field of creativity has been on the development of methodologies aimed at deliberately nurturing creative thinking. These methodologies have attempted to mirror the creative process in ways that allow individuals and groups to explicitly call on and employ their creative faculties. In an attempt to uplift employees’ creative capabilities many of these methodologies have been introduced into organizations through training programs, as well as through application to business challenges. Do these methods work? What is the empirical evidence that these deliberate creative process methods enhance employees’ creativity? Though there are a handful of creative process methods, few have married the concern for application with an interest in demonstrating the benefits of these applied efforts through systematic research. Creative Problem Solving (CPS), one of the more popular creative process models, has been one of the rare exceptions. The purpose of this paper is to synthesize the research literature that reports on the impact of CPS training carried out within organizational contexts, that is training programs that involved professionals or students working on real business challenges. Additionally, the positive benefits of CPS are further examined through reports that cite the outcomes of applying CPS to business challenges. In a field replete with methods that have been commercialized, it is imperative to strike a balance between research and practice as an imbalance towards practice may foster a field dominated by individuals who offer untested products and services.     

Extended treatment with bupropion SR for cigarette smoking cessation.

The authors present results of a randomized clinical trial of the efficacy of extended treatment with bupropion SR in producing longer term cigarette smoking cessation. Adult smokers (N = 362) received open-label treatment (11 weeks) that combined relapse prevention training, bupropion SR, and nicotine patch followed by extended treatment (14 weeks) with bupropion SR or matching placebo. Abstinence percentages were relatively high (week 11: 52%; week 25: bupropion, 42%; placebo, 38%; week 52: bupropion, 33%; placebo, 34%), but bupropion SR did not surpass placebo. Gender and baseline craving level were identified as significant, independent moderators of treatment response. Men were more likely to abstain than women (week 11: 59% vs. 43%, p = .001; week 25: 48% vs. 31%, p = .001; week 52: 39% vs. 27%, p = .01). Because most smokers suffer relapse with any current cessation treatment, the comparatively high abstinence percentages achieved in this trial are of interest. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

A Gunn-Diode Active Leaky-Wave Frequency Scanning Antenna

A frequency tunable active leaky-wave scanning antenna using Gunn-diode voltage control oscillator (VCO) as source is developed. The frequency tuning controlled by changing either the varactor diode dc bias or the Gunn diode dc bias is demonstrated. The measured scanning angle of active antenna is close to 15 degree as the Gunn VCO frequency tuned from 12.58GHz to 12.98GHz. To excite the first higher order mode of the microstrip leaky-wave antenna is fed asymmetrically. The dominant mode excitation has been successfully suppressed by adding a sequence of covered wire in the middle line of the microstrip leaky wave antenna. This is a prototype of frequency scanning antenna using two terminal device, which can be easily scaled up to millimeter wave frequency region.     

1H-NMR of the amidation of syndiotactic poly(methacrylic acid) with carbodiimide

Summary The reaction of syndiotactic poly(methacrylic acid) with dicyclohexylcarbodiimide in the presence of benzylamine yields syndiotactic methacrylic acid-methacryloyl-N-benzylamide copolymers. A limiting conversion to amide of about 62% and a tendency of alternation for the monomer units is observed by¹H-NMR. The amidation is accompanied by the formation of a smaller amount of cyclic imide as a side reaction. The imide portion can also be transformed into amide by a consecutive hydrolysis step.