Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients

Background: Amyotrophic lateral sclerosis (ALS) is a devastating disease whose complex pathology has been associated with a strong genetic component in the context of both familial and sporadic disease. Herein, we adopted a next-generation sequencing approach to Greek patients suffering from sporadic ALS (together with their healthy counterparts) in order to explore further the genetic basis of sporadic ALS (sALS). Results: Whole-genome sequencing analysis of Greek sALS patients revealed a positive association between FTO and TBC1D1 gene variants and sALS. Further, linkage disequilibrium analyses were suggestive of a specific diseaseassociated haplotype for FTO gene variants. Genotyping for these variants was performed in Greek, Sardinian, and Turkish sALS patients. A lack of association between FTO and TBC1D1 variants and sALS in patients of Sardinian and Turkish descent may suggest a founder effect in the Greek population. FTO was found to be highly expressed in motor neurons, while in silico analyses predicted an impact on FTO and TBC1D1 mRNA splicing for the genomic variants in question. Conclusions: To our knowledge, this is the first study to present a possible association between FTO gene variants and the genetic etiology of sALS. In addition, the next-generation sequencing-based genomics approach coupled with the two-step validation strategy described herein has the potential to be applied to other types of human complex genetic disorders in order to identify variants of clinical significance

Μελέτη μεθυλίωσης του γονιδίου FOXP1 σε κυκλοφορούν καρκινικό DNA ασθενών με καρκίνο κεφαλής και τραχήλου και μη μικροκυτταρικό καρκίνο του πνεύμονα

Μέσα στο έτος 2020 σημειώθηκαν 19,3 εκατομμύρια νέα περιστατικά καρκίνου και σχεδόν 10 εκατομμύρια θάνατοι παγκοσμίως. Το 2040, εκτιμάται ότι τα νέα περιστατικά καρκίνου θα είναι 28,4 εκατομμύρια. Τα καρκινικά κύτταρα εμφανίζουν μεγάλη ετερογένεια, ωστόσο η γνώση των κοινών χαρακτηριστικών στοιχείων που υπάρχουν μεταξύ τους μας εξασφαλίζει την δυνατότητα να τα μελετούμε εκτενώς. Η υγρή βιοψία περιλαμβάνει την δειγματοληψία και την ανάλυση βιολογικών υγρών, συνήθως του αίματος, με σκοπό την παρακολούθηση ασθενών με καρκίνο, την πρόγνωση και την επιλογή κατάλληλων θεραπειών. Τα κυκλοφορούντα συστατικά του όγκου (που αναφέρονται και ως “tumor circulome”) μπορούν να χρησιμοποιηθούν άμεσα ή έμμεσα ως πηγή για καρκινικούς βιοδείκτες. Η μελέτη των σημειακών μεταλλάξεων που χαρακτηρίζουν τον όγκο, των χρωμοσωμικών ανακατατάξεων, των διακυμάνσεων του αριθμού μεταγράφων αλλά και της μεθυλίωσης του DNA αποτελούν τις βασικές συνιστώσες για την ανάλυση του κυκλοφορούντος καρκινικού DNA (circulating tumor DNA, ctDNA). O σκοπός της παρούσας διπλωματικής εργασίας ήταν η μελέτη της μεθυλίωσης του υποκινητή του γονιδίου FOXP1 σε κυκλοφορούν καρκινικό DNA ασθενών με καρκίνο κεφαλής και τραχήλου (συνολικός αριθμος δειγμάτων n= 97) και ασθενών με μη μικροκυτταρικό καρκίνο του πνεύμονα (συνολικός αριθμός δειγμάτων n= 78). Εφαρμόστηκε η τεχνική της ειδικής για μεθυλίωση PCR σε πραγματικό χρόνο (Real-time MSP).During 2020 an estimated 19.3 million new cancer cases and almost 10.0 million cancer deaths occurred worldwide. Until the year 2040 it is estimated that 28.4 million cancer cases will occur. Tumor cells are very heterogenous, however, the identification of some common characteristics between them allows us to study them extensively. Liquid biopsy involves the sampling and analysis of biological fluids, usually blood, for the purpose of monitoring cancer patients, prognosis and guiding treatment selection. Circulating tumor components (tumor circulome) can be used directly or indirectly as a source of cancer biomarkers. Point mutations that characterize the tumor, chromosomal rearrangements, copy number variations and DNA methylation are the key components for the analysis of circulating tumor DNA (ctDNA). In this diploma thesis we studied the promoter methylation status of FOXP1 gene in ctDNA of patients with HNSCC (total number of samples n= 97) and patients with NSCLC (total number of samples n= 78). The promoter methylation status of FOXP1 gene was evaluated by Real-time Methylation Specific PCR (Real-time MSP)

Αρχή μεγίστου, θεωρία ομαλότητας και φασματικές ιδιότητες της αρνητικής Λαπλασιανής

Εθνικό Μετσόβιο Πολυτεχνείο--Μεταπτυχιακή Εργασία. Διεπιστημονικό-Διατμηματικό Πρόγραμμα Μεταπτυχιακών Σπουδών (Δ.Π.Μ.Σ.) “Εφαρμοσμένες Μαθηματικές Επιστήμες

Zika virus infection in a newly married Greek couple

Zika virus (ZIKV) is a member of the Flaviviridae family causing asymptomatic or mildly symptomatic infections with fever, rash, arthralgia and headache. It is transmitted by the Aedes species mosquitoes and also sexually and transplacentally, and has been recently associated with congenital neurologic birth defects in South and Central America. We report the case of a newly married couple from Greece who travelled to Cuba for their honeymoon and developed mild symptoms consistent with arboviral infection. After returning to Greece, they were found to have been infected by Zika virus during their honeymoon. These are the first two cases of Zika virus infection in Greece, the southeastern border of Europe, denoting that Zika virus infection poses a threat for public health worldwide, since returning travelers could be asymptomatic carriers of the virus, not only leading to risk of neurologic birth defects for their offspring but also the real risk of transmission of the virus in their country by local Aedes mosquitoes

Barriers in implementing research findings in cancer care: the Greek registered nurses perceptions

This study explored Greek nurses’ perceptions of the barriers to research utilization faced in every day practice. The barriers between nurses working in cancer and general hospitals, as well as between those employed at central and provincial hospitals were compared. The study used a cross-sectional design and data were collected using the “Barriers Scale” (Funk et al., 1991a, Applied Nursing Research, 4, 39–45). A convenience sample of 301 nurses was randomly selected from 12 hospitals in Greece. The two key barriers identified were related to the ‘availability of research findings’. English language was perceived to range between moderate and major barrier for the vast majority of participants (n=231, 78%). Nurses surveyed indicated the presentation of research findings as the greatest barrier while the characteristics of nurses themselves were perceived as the least important one. No significant differences were found between types of hospitals (cancer/general) and geographical areas (central/provincial). Some differences, however, were observed in relation to specific items of the scale such as feeling isolated from ‘research-knowledgeable’ colleagues and having insufficient time to implement new ideas. The observations reported here appear to agree with the findings in mainstream literature. The results suggest that more emphasis should be given in research methodology, statistics and critical appraisal skills at all levels of nursing education, and that efforts should be made towards increasing research availability and creating supportive environments for implementation of research findings

Association of rs738409 Polymorphism in Adiponutrin Gene with Liver Steatosis and Atherosclerosis Risk Factors in Greek Children and Adolescents

Non-alcoholic fatty liver disease (NAFLD) shares several risk factors with atherosclerosis, as it is associated with components of the metabolic syndrome. However, genetic variations have also been linked to the risk of NAFLD, such as adiponutrin/patatin-like phospholipase domain-containing the protein 3 (PNPLA3) rs738409 polymorphism. The aim of the study was to determine the associations of thePNPLA3 rs738409 polymorphism with NAFLD and atherosclerosis risk factors in children and adolescents from northern Greece. A total of 91 children/adolescents who followed a Mediterranean eating pattern with no particular restrictions were studied. They were divided into three subgroups, according to their body mass index (BMI) and the presence or absence of liver disease. Diagnosis of NAFLD was based on a liver ultrasound, while the distribution of the PNPLA3 rs738409 polymorphism was investigated in all the participants. From the components of metabolic syndrome, only BMI, waist circumference, blood pressure, and the homeostasis model of insulin resistance (HOMA-IR) differed significantly between groups. The rs738409 polymorphism was significantly associated with BMI and NAFLD, while lipid values had no significant association with either NAFLD or gene polymorphism. This study shows that in Greekchildren, there is a significant association between the rs738409polymorphism in the PNPLA3 gene and hepatic steatosis, regardless of bodyweight

Efficacy of a Robot-Assisted Intervention in Improving Learning Performance of Elementary School Children with Specific Learning Disorders

(1) Background: There has been significant recent interest in the potential role of social robots (SRs) in special education. Specific Learning Disorders (SpLDs) have a high prevalence in the student population, and early intervention with personalized special educational programs is crucial for optimal academic achievement. (2) Methods: We designed an intense special education intervention for children in the third and fourth years of elementary school with a diagnosis of a SpLD. Following confirmation of eligibility and informed consent, the participants were prospectively and randomly allocated to two groups: (a) the SR group, for which the intervention was delivered by the humanoid robot NAO with the assistance of a special education teacher and (b) the control group, for which the intervention was delivered by the special educator. All participants underwent pre- and post-intervention evaluation for outcome measures. (3) Results: 40 children (NAO = 19, control = 21, similar baseline characteristics) were included. Pre- and post-intervention evaluation showed comparable improvements in both groups in cognition skills (decoding, phonological awareness and reading comprehension), while between-group changes favored the NAO group only for some phonological awareness exercises. In total, no significant changes were found in any of the groups regarding the emotional/behavioral secondary outcomes. (4) Conclusion: NAO was efficient as a tutor for a human-supported intervention when compared to the gold-standard intervention for elementary school students with SpLDs

Imported Chikungunya fever case in Greece in June 2014 and public health response

We report about the first imported case of Chikungunya fever in Greece in a Greek traveler returning from the Dominican Republic and the associated public health response. We investigated the case and performed focused epidemiological and entomological investigation in all areas the patient visited during the infectious period, to identify the targeted interventions needed. Entomological investigation revealed the occurrence of the competent vector Aedes albopictus (Diptera: Culicidae) in the environment surrounding the hospital where the patient was admitted and in her workplace. All captured mosquitoes tested negative for Chikungunya virus. We further conducted clinical and laboratory examination of the patient's co-travelers, gave advice on appropriate personal preventive measures against mosquito bites to the patient and co-travelers and on vector control, and raised awareness among health professionals throughout Greece. The risk of introduction and local transmission of Chikungunya and other arboviruses in Greece and other European countries is present, as the competent vector exists in many parts of Europe. Public health professionals, travel medicine specialists and clinicians should maintain awareness regarding this possibility of importation of arbovirus cases in order to provide the appropriate advice, seek the prompt diagnosis, and implement appropriate interventions. Mobilization of various stakeholders will lead to enhanced epidemiological and entomological surveillance that will allow for improved risk assessment in each area