Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants in SON. Its encoded protein promotes pre-mRNA splicing of many genes essential for development. Whereas individual phenotypic traits have previously been linked to erroneous splicing of SON target genes, the phenotypic spectrum and the pathogenicity of missense variants have not been further evaluated. We present the phenotypic abnormalities in 52 individuals, including 17 individuals who have not been reported before. In total, loss-of-function variants were detected in 49 individuals (de novo in 47, inheritance unknown in 2), and in 3, a missense variant was observed (2 de novo, 1 inheritance unknown). Phenotypic abnormalities, systematically collected and analyzed in Human Phenotype Ontology, were found in all organ systems. Significant inter-individual phenotypic variability was observed, even in individuals with the same recurrent variant (n = 13). SON haploinsufficiency was previously shown to lead to downregulation of downstream genes, contributing to specific phenotypic features. Similar functional analysis for one missense variant, however, suggests a different mechanism than for heterozygous loss-of-function. Although small in numbers and while pathogenicity of these variants is not certain, these data allow for speculation whether de novo missense variants cause ZTTK syndrome via another mechanism, or a separate overlapping syndrome. In conclusion, heterozygous loss-of-function variants in SON define a recognizable syndrome, ZTTK, associated with a broad, severe phenotypic spectrum, characterized by a large inter-individual variability. These observations provide essential information for affected individuals, parents, and healthcare professionals to ensure appropriate clinical management

Development of a novel biosensor for homocysteine determination

31st Congress of the Federation-of-European-Biochemical-Societies (FEBS) -- JUN 24-29, 2006 -- Istanbul, TURKEYWOS: 000238914002375Federat European Biochem So

A Context Based Approach to Digital Architectural Modelling Education

This paper presents a context based framework for introducing digital modelling and fabrication to architecture students. Modelling has being taught either as a separate skill, or introduced within a comprehensive context of conventional design approaches. We argue that, a ‘digestive context’ might guide students to gain designing experience with/in digital media in a gradual and a cumulative way. This paper is based on a series of modelling and fabrication exercises as part of a one-semester digital design and modelling studio course for postgraduate students. We focus on the impact the initial exercises we assigned our students had on the final design product; We discuss the affordance and adaptability of the method that was developed by the students

How to Teach Architects (Computer) Programming: a Case Study

Computer programming in architecture seems to be commonplace throughout the eCAADe Community. Yet, a critical evaluation of a programming course as seen from a student’s side is still missing. During a week-long programming workshop in a fellow university, we have been assessing subjective parameters such as mood, quality of presentation and comprehensibility, comparing these to the actual topics that were covered at this instance. Our results contribute to understanding architecture students in their quest towards algorithmical thinking. We are convinced that the discussion given in this paper will help other teachers to further increase the quality of their lectures. Furthermore, the structure of our approach may serve as basis for further research into recording student behavior during programming courses

How to Deal with Novel Theories in Architectural Education A Framework for Introducing Evolutionary Computation to Students

Evolution of/in artificial systems has been discussed in many fields such as computer science, architecture, natural and social sciences over the last fifty years. Evolutionary computation which takes its roots in computation and biology has a potential to enrich ways of thinking in architecture. This paper focuses mainly on the methodology of how evolutionary computation theories might be embedded in architectural education within the theoretical course in graduate level

A Generative Design Model for Gaziantep s Traditional Pattern

This paper describes a research to develop new urban designalternatives for Gaziantep by using fractal based approaches. The aim of the research is not only generating new form alternatives but also considering the continuity of traditional architectural and urban pattern which faces deterioration. Within this study, it is intended to test the applicability of the fractal based generative approaches and explore the potential advantages. The method called CADaFED (Ediz, 2003) is updated to be used in one of the 3d modelling programs, 3DsMax scripting and it is used as an experimental tool in two-day student workshop. The working field is limited as Bey Neighbourhood in Gaziantep for its well-preserved architectural characteristics. In this paper, the outcomes of the student workshop will be evaluated and discussed in the sense of affirmative effects of fractal based design approaches

Sukkula retrotransposon insertion polymorphisms in barley

Tissue culture could be considered as one of the stress factors that affect the activation of retrotransposons. In this study, mature barley embryos (Hordeum vulgare L., cv. Tokak 157/37) were cultured for callus formation. Sukkula (a non-autonomous retrotransposon) polymorphism was investigated in calli with different culturing time (40- and 80-day-old), which was derived from the same embryo in MS medium supplemented with 3 mg/L of Dicamba. Polymorphism was detected using Inter-Retrotransposon Amplified Polymorphism (IRAP) and Inter-Primer Binding Site Amplification (iPBS) techniques with two different Sukkula-specific primers. Noncultured five mature embryos were used as a control. While up to 14% polymorphism rate was observed in the case of noncultured embryos, 61 and 0% polymorphism rates were observed with IRAP analyses for 40- and 80-day-old calli, respectively. iPBS analysis revealed the polymorphism ratio up to 29% in noncultured material, and up to 58 and 70% in 40- and 80-day-old callus materials, respectively. In addition, there were 50 and 74% polymorphism rates between 40- and 80-day-old calli by IRAP and iPBS analyses, respectively. The results obtained showed that tissue culture conditions and callus age affected Sukkula retrotransposon movements, and all individuals did not present the same effect

among the university students

Objective: The aim of this study is to reveal the relationship between internet addiction (IA) and smoking and alcohol use among university students. Method: 2096 students attending Pamukkale University were included in the study. Data collection tools were, Internet Addiction Scale (IAS), CAGE Test and Sociodemographic Data Form which was formed by the study authors for the present study to collect data about the student's age, sex, alcohol and cigarette use history and internet use characteristics (time spent online, type etc.). Results: The prevalence of internet addiction was found as 8.6% in our study group. Higher rates of smoking and alcohol use were found among students with internet addiction. In addition, students who smoke and use alcohol had significantly higher IAS scores compared to the students without alcohol or cigarette use. In our study positive relationship was found between IAS scores and CAGE scores. The frequency of alcohol use was found to increase significantly as the IAS scores increase. There was no significant difference between the groups in terms of the daily cigarette consumption amount. However, the average time spent on cigarette use was significantly higher in the group with internet addiction. In addition IAS scores were found to increase significantly as the smoking year and the amount of daily cigarette smoking increased. Discussion: According to the findings of our study, internet addiction seems to be a common problem among university students. Internet addiction was found to be associated with smoking and alcohol use

Modafinil Dependence: A Case with Attention-Deficit/Hyperactivity Disorder.

Modafinil is generally known as a drug with low addiction potential. There are few case reports in the literature demonstrating that Modafinil, stated being capable of diminishing symptoms of attention deficit/hyperactivity disorder (ADHD), causes addiction. In the present article a Modafinil addicted ADHD case, consuming usurious doses (5,000 mg/per day) of Modafinil is presented. The case presented to our psychiatry outpatient clinic due to: requirement of in taking high dose Modafinil in order to achieve the initial effects, difficulty in obtaining the drug, irritability, anxiousness, sleep irregularities, fatigue and unpleasant vivid dreams when he did not use the drug. It was realized that the patient, himself increased doses of Modafinil incrementally, in order to keep its effects on attention symptoms at the same level. It has to be kept in mind that ADHD patients can develop Modafinil addiction. It is necessary to carry out systemic studies on this subject