Mild Phenotype in a Patient with a De Novo

We report on a 29-year-old Greek-Cypriot female with a de novo 6.3 Mb distal 10q26.2q26.3 deletion. She had a very mild neurocognitive phenotype with near normal development and intellect. In addition, she had certain distinctive features and postural orthostatic tachycardia. We review the relevant literature and postulate that certain of her features can be diagnostically relevant. This report illustrates the powerful diagnostic ability of array-CGH in the elucidation of relatively mild phenotypes

Measurement of cerebrospinal fluid flow velocity in aqueduct of Sylvius with Phase-Contrast Magnetic Resonance Imaging

110 σ.Σκοπός της παρούσας διπλωματικής εργασίας είναι η διερεύνηση της ταχύτητας ροής του εγκεφαλονωτιαίου υγρού (ΕΝΥ) διαμέσω του υδραγωγού του Sylvius, σε φυσιολογικές καταστάσεις αλλά και σε παθολογικές καταστάσεις όπου υπάρχει υποψία για επικοινωνών Υδροκέφαλο. Για το σκοπό αυτό χρησιμοποιήθηκε η μέθοδος Απεικόνισης Μαγνητικού Συντονισμού φάσης– αντίθεσης (Phase–Contrast MR Imaging). Τα δεδομένα παραχωρήθηκαν από το Δρ. Γκότση Ευστάθιο, διευθυντή του τμήματος Φυσικής Μαγνητικού Συντονισμού στο διαγνωστικό κέντρο Euromedica–ΕΓΚΕΦΑΛΟΣ. Συγκεκριμένα, τα δεδομένα αυτά λήφθηκαν από δείγμα 38 ατόμων από τους οποίους οι 24 ήταν ασθενείς ηλικίας από 48 μέχρι 82 ετών (μέση ηλικία: 71 ετών), με υποψία επικοινωνούντος Yδροκεφάλου και οι υπόλοιποι 14 ήταν υγιή άτομα αντίστοιχης ηλικίας. Όλοι εξετάστηκαν σε Μαγνητικό Τομογράφο 1,5 Τ (GE Signa HDxt, Milwaukee, USA) με την τεχνική Απεικόνισης Φάσης–Αντίθεσης. Στο πρώτο μέρος της διπλωματικής εργασίας γίνεται μια συνοπτική περιγραφή των βασικών αρχών λειτουργίας της Απεικόνισης Μαγνητικού Συντονισμού (Magnetic Resonance Imaging) καθώς, επίσης και μια περιγραφή της σύστασης και της κυκλοφορίας του εγκεφαλονωτιαίου υγρού. Ακολούθως αναλύονται οι φυσικές αρχές της Απεικόνισης Φάσης–Αντίθεσης. Τέλος, παρουσιάζεται η διαδικασία που πραγματοποιήθηκε για την εξέταση των υπό μελέτη ατόμων, μαζί με τα αποτελέσματα που ανακτήθηκαν και τα συμπεράσματα που προέκυψαν.This thesis intends to investigate the cerebrospinal fluid (CSF) flow velocity through the aqueduct of Sylvius, in healthy as well as in pathological subjects, where there is suspicion for communicating Hydrocephalus. In order to achieve that, the method of Phase–Contrast Magnetic Resonance Imaging has been used. The data were provided by Dr. Efstathios Gotsis, director of the department of Magnetic Resonance Physics, at the diagnostic Institute Euromedica–ENCEPHALOS. To be more precise, the data consist of 38 subjects, among them 24 were patients aged 48 to 82 years old (mean age: 71 years) with suspected communicating Hydrocephalus, and 14 were healthy subjects of comparable age. All subjects were examined by 1.5 T MRI system (GE Signa HDxt, Milwaukee, USA) with Phase–Contrast Imaging technique. The first part of this thesis include a description of the basic principles of Magnetic Resonance Imaging as well as a description of the production and circulation of CSF, followed by the physical principles of Phase–Contrast Imaging. Finally, the process followed for the examination of subjects being investigated, as well as the retrieved results and conclusions obtained are presented.Ελπινίκη Μ. Νικολάο

How do parents select educational apps for young children?

Educational apps for mobile devices for young children have seen increasingly high rates of growth. As with other media, parents play a key role in young children's app selection and use. However, to date, we know very little about how parents select apps for their children. A survey was conducted with a sample of 51 parents with at least one child between 5-12 years old, who attended a science dissemination initiative called European Researcher's night in Cyprus and had their child interact with an educational app on emotion management. The survey documents parental perspectives on purchases of educational apps, including five factors that are important for parents to consider when purchasing educational apps. Findings offer important insight for the educational media production industry into how parents select educational apps for their children

Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3

We report on a 29-year-old Greek-Cypriot female with a de novo 6.3 Mb distal 10q26.2q26.3 deletion. She had a very mild neurocognitive phenotype with near normal development and intellect. In addition, she had certain distinctive features and postural orthostatic tachycardia. We review the relevant literature and postulate that certain of her features can be diagnostically relevant. This report illustrates the powerful diagnostic ability of array-CGH in the elucidation of relatively mild phenotypes