Native Speaker Perceptions of Accented Speech: The English Pronunciation of Macedonian EFL Learners

The paper reports on the results of a study that aimed to describe the vocalic and consonantal features of the English pronunciation of Macedonian EFL learners as perceived by native speakers of English and to find out whether native speakers who speak different standard variants of English perceive the same segments as non-native. A specially designed computer web application was employed to gather two types of data: a) quantitative (frequency of segment variables and global foreign accent ratings on a 5-point scale), and b) qualitative (open-ended questions). The result analysis points out to three most frequent markers of foreign accent in the English speech of Macedonian EFL learners: final obstruent devoicing, vowel shortening and substitution of English dental fricatives with Macedonian dental plosives. It also reflects additional phonetic aspects poorly explained in the available reference literature such as allophonic distributional differences between the two languages and intonational mismatch

Duplication of chromosome 16p13.11-p12.3 with different expressions in the same family

The knowledge about genetic involvement in neurodevelopmental disorders, and especially in autism, is currently rising. To date, more than 100 gene mutations related to autistic syndromes have been described. Some disorders that affect multiple family members are caused by gene mutations, which can be inherited. Recently, array comparative genomic hybridization (aCGH) has identified sub microscopic deletions and duplications as a common cause of mental retardation and autism. In this article we report the occurrence of the same genetic finding (chromosome 16p13.11-p12.3 duplication) in a family with four small children, where two older siblings manifested a global neurodevelopmental delay associated with an autism spectrum disorder (ASD), but younger twin brothers with the same mutation, have typical development. Genetic analysis showed that the chromosomal duplication was inherited from the father, in which phenotype and functioning are quite typical. As is known, the duplication can pass from parents to children. The 16p13.11 micro duplication has been implicated in several neurodevelopmental and behavioral disorders and is characterized by variable expressivity and incomplete penetrance

THE INCIDENCE AND TYPE OF CHROMOSOMAL TRANSLOCATIONS FROM PRENATAL DIAGNOSIS OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA

Robertsonian and reciprocal chromosomal translocations are the most frequent type of structural chromosomal aberrations in the human population. We report the frequency and type of detected translocations in 10 years of prenatal diagnosis of 3800 prenatal samples. The materials came from amniocentesis and chorionic villus samples (CVS). We detected seven Robertsonian translocations (0.18%), eight autosomal reciprocal translocations (0.21%) and one sex chromosome translocation (0.03%). The overall frequency of all translocations was 0.42%. Balanced state translocations were 0.29% and the frequency of translocations in an unbalanced state was 0.13%. There was one balanced de novo X-autosome translocation [46,X,t(X;10)(p11.23;q22.3)] and one balanced double translocation [46,XX,t(1;21);t(7;16)(1p21; 21q11) (7q31;16q23)] inherited from the mother. Most of the detected translocations were the result of unknown familial translocations, but some of them had been previously detected in one of the parents. In order to detect the recurrence risk for future pregnancies, we proposed genetic counseling in each of the cases and we established whether the parents were heterozygous for the same translocation. Histopatological findings for some unbalanced translocations correlated with phenotypes of detected unbalanced karyotype

E-learning as a tool to harmonize education and good quality assurance system in radiopharmacy

Porpose Basic education in radiopharmacy in an essential component of the scientific and technical background of a radiopharmacist and the inescapable route by which quality assurance in radiopharmacy can be implemented. The purpose of this study was to evaluate e-learning as a method to improve worldwide education in radiopharmacy and increase the awarness about concepts pertaining the quality of radiopharmaceuticals. Design and Methodology to establish e-learning platform designed as an innovative learning apparatus that, working along side conventional teaching methods, integrates education in all aspects of Radiopharmacy into the curricula being offered by universities at existing education and training institutions is the step forward to the global recognition of the unified standards. In this study, a few lines of analysis for developing a suitable e-learning platform in radiopharmacy were as follows: -Course flexibility to improve access and personalization by Students, rigorous definition of basic concepts and methods according to international standards, significantly decrease costs for education in radiopharmacy, enable fast practical implementation of theoretical concepts through virtual laboratory, building up a worldwide available, virtual repoitory of learning resourced in radiopharmacy. findings. Each module is designed as a "basic unit of knowledge", comprising a group of minimum competencies and knowledge about a specific subject and used independently or in combination with other modules or training resources, students can select the module and the time that best suits his/her professional needs for accessing the material. diversity and interactions between different educational contexts are exploited to increase harmonization and integration

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene

Purpose: The main objective of this study was to assess clinical features and genome-wide DNA methylation profiles in individuals affected by intellectual developmental disorder, autosomal dominant 21 (IDD21) syndrome, caused by variants in the CCCTC-binding factor (CTCF) gene. Methods: DNA samples were extracted from peripheral blood of 16 individuals with clinical features and genetic findings consistent with IDD21. DNA methylation analysis was performed using the Illumina Infinium Methylation EPIC Bead Chip microarrays. The methylation levels were fitted in a multivariate linear regression model to identify the differentially methylated probes. A binary support vector machine classification model was constructed to differentiate IDD21 samples from controls. Results: We identified a highly specific, reproducible, and sensitive episignature associated with CTCF variants. Six variants of uncertain significance were tested, of which 2 mapped to the IDD21 episignature and clustered alongside IDD21 cases in both heatmap and multidimensional scaling plots. Comparison of the genomic DNA methylation profile of IDD21 with that of 56 other neurodevelopmental disorders provided insights into the underlying molecular pathophysiology of this disorder. Conclusion: The robust and specific CTCF/IDD21 episignature expands the growing list of neurodevelopmental disorders with distinct DNA methylation profiles, which can be applied as supporting evidence in variant classification