Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

Wolf-Hirschhorn syndrome (WHS) is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements lead to a wide spectrum of clinical manifestations. The majority of the reports of prenatally diagnosed WHS cases are associated with large 4p deletions identified by conventional chromosome analysis; however, the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH) has increased the detection rate of submicroscopic chromosomal aberrations associated with WHS phenotype. We provide a report of two fetuses with WHS presenting with intrauterine growth restriction as an isolated finding or combined with oligohydramnios and abnormal Doppler waveform in umbilical artery and uterine arteries. Standard karyotyping demonstrated a deletion on chromosome 4 in both cases [del(4)(p15.33) and del(4)(p15.31), respectively] and further application of a-CGH confirmed the diagnosis and offered a precise characterization of the genetic defect. A detailed review of the currently available literature on the prenatal diagnostic approach of WHS in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided

The effect of an explicit and integrated dictionary awareness intervention program on dictionary use strategies

There is a growing interest in pedagogical lexicography, and more specifically in the study of dictionary users’ abilities and strategies (Prichard 2008; Gavriilidou 2010, 2011; Gavriilidou/Mavrommatidou/Markos 2020; Gavriilidou/Konstantinidou 2021; Chatjipapa et al. 2020). Τhe purpose of this presentation is to investigate dictionary use strategy and the effect of an explicit and integrated dictionary awareness intervention program on upper elementary pupils’ dictionary use strategies according to gender and type of school. A total of 150 students from mainstream and intercultural schools, aged 10–12 years old, participated in the study. Data were collected before and after the intervention through the Strategy Inventory for Dictionary Use (SIDU) (Gavriilidou 2013). The results showed a significant effect of the intervention program on Dictionary Use Strategies employed by the experimental group and support the claim that increased dictionary use can be the outcome of explicit strategy instruction. In addition, the effective application of the program suggests that a direct and clear presentation of DUS is likely to be more successful than an implicit presentation. The present study contributes to the discussion concerning both the ‘teachability’ of dictionary use strategies and skills and the effective forms of intervention programs raising dictionary use awareness and culture

Statistical Analysis of Major Accidents in Petrochemical Industry Notified to the Major Accident Reporting System (MARS)

The European major accident reporting system (MARS) was created within the framework of European Union (EU) directive 82/501, the so-called “SEVESO” directive, and in order to register all the major industrial accidents notified to the European Union authorities from the member states. Statistical analysis of these accidents offers significant data to the understanding and prevention of industrial accidents. This paper makes an analysis of some characteristics of major accidents in the petrochemical sector included in MARS. The statistical analysis focused on the main categorization fields of the MARS short reports and additionally a refinement of the immediate causes of major accidents with focus on the organizational factors was attempted through the details provided in the full reports of the database.JRC.G.4-Maritime affair