MEDITERRANEAN DIET AND ADOLESCENTS WITH INTELLECTUAL DISABILITIES

The purpose of the present study is to evaluate the adoption of Mediterranean diet in adolescents with intellectual disabilities. The sample of the study consisted of 24 adolescents (8 boys and 16 girls) with intellectual disabilities who were studying at a secondary education school, with an average age of 17.63+2.018 years. For data collection, the Mediterranean Diet Quality Index for Children and Adolescents (KIDMED) by Serra-Majem et al. (2004) was used. KIDMED is supported by specific principles sustaining traditional healthy Mediterranean dietary patterns. KIDMED is based on a 16-item food consumption log questionnaire that can be answered either self-administered or in interview. As for the pupils with intellectual disabilities, the answers were recorded in an individual interview. For the statistical analysis the Statistical Package for Social Sciences ver. 23.0 for windows was used. Data processing showed that over the 1/3 of adolescents with intellectual disabilities (37.5%) has a very low diet quality, while the proportion of adolescents following an optimal Mediterranean diet was zero. In addition, the diet of the adolescents with intellectual disabilities in a very large proportion (62.5%) needs improvement for the adaptation of the consumption / intake to Mediterranean patterns. The results show that adolescents with intellectual disabilities do not follow the Mediterranean diet. Therefore, priority should be given to the application and implementation of health educational programs on diet in general, and more specifically on the benefits of Mediterranean diet to adolescents with intellectual disabilities, in order to adopt the Mediterranean diet patterns aiming on the beneficial effects, both directly and long-term in their adult life.  Article visualizations

Application of next generation sequencing in cardiology: current and future precision medicine implications

Inherited cardiovascular diseases are highly heterogeneous conditions with multiple genetic loci involved. The application of advanced molecular tools, such as Next Generation Sequencing, has facilitated the genetic analysis of these disorders. Accurate analysis and variant identification are required to maximize the quality of the sequencing data. Therefore, the application of NGS for clinical purposes should be limited to laboratories with a high level of technological expertise and resources. In addition, appropriate gene selection and variant interpretation can result in the highest possible diagnostic yield. Implementation of genetics in cardiology is imperative for the accurate diagnosis, prognosis and management of several inherited disorders and could eventually lead to the realization of precision medicine in this field. However, genetic testing should also be accompanied by an appropriate genetic counseling procedure that clarifies the significance of the genetic analysis results for the proband and his family. In this regard, a multidisciplinary collaboration among physicians, geneticists, and bioinformaticians is imperative. In the present review, we address the current state of knowledge regarding genetic analysis strategies employed in the field of cardiogenetics. Variant interpretation and reporting guidelines are explored. Additionally, gene selection procedures are accessed, with a particular emphasis on information concerning gene-disease associations collected from international alliances such as the Gene Curation Coalition (GenCC). In this context, a novel approach to gene categorization is proposed. Moreover, a sub-analysis is conducted on the 1,502,769 variation records with submitted interpretations in the Clinical Variation (ClinVar) database, focusing on cardiology-related genes. Finally, the most recent information on genetic analysis's clinical utility is reviewed

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

Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications

To date only a fraction of the genetic footprint of thyroid function has been clarified. We report a genome-wide association study meta-analysis of thyroid function in up to 271,040 individuals of European ancestry, including reference range thyrotropin (TSH), free thyroxine (FT4), free and total triiodothyronine (T3), proxies for metabolism (T3/FT4 ratio) as well as dichotomized high and low TSH levels. We revealed 259 independent significant associations for TSH (61% novel), 85 for FT4 (67% novel), and 62 novel signals for the T3 related traits. The loci explained 14.1%, 6.0%, 9.5% and 1.1% of the total variation in TSH, FT4, total T3 and free T3 concentrations, respectively. Genetic correlations indicate that TSH associated loci reflect the thyroid function determined by free T3, whereas the FT4 associations represent the thyroid hormone metabolism. Polygenic risk score and Mendelian randomization analyses showed the effects of genetically determined variation in thyroid function on various clinical outcomes, including cardiovascular risk factors and diseases, autoimmune diseases, and cancer. In conclusion, our results improve the understanding of thyroid hormone physiology and highlight the pleiotropic effects of thyroid function on various diseases

Global burden of 288 causes of death and life expectancy decomposition in 204 countries and territories and 811 subnational locations, 1990–2021: a systematic analysis for the Global Burden of Disease Study 2021

BACKGROUND Regular, detailed reporting on population health by underlying cause of death is fundamental for public health decision making. Cause-specific estimates of mortality and the subsequent effects on life expectancy worldwide are valuable metrics to gauge progress in reducing mortality rates. These estimates are particularly important following large-scale mortality spikes, such as the COVID-19 pandemic. When systematically analysed, mortality rates and life expectancy allow comparisons of the consequences of causes of death globally and over time, providing a nuanced understanding of the effect of these causes on global populations. METHODS The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021 cause-of-death analysis estimated mortality and years of life lost (YLLs) from 288 causes of death by age-sex-location-year in 204 countries and territories and 811 subnational locations for each year from 1990 until 2021. The analysis used 56 604 data sources, including data from vital registration and verbal autopsy as well as surveys, censuses, surveillance systems, and cancer registries, among others. As with previous GBD rounds, cause-specific death rates for most causes were estimated using the Cause of Death Ensemble model-a modelling tool developed for GBD to assess the out-of-sample predictive validity of different statistical models and covariate permutations and combine those results to produce cause-specific mortality estimates-with alternative strategies adapted to model causes with insufficient data, substantial changes in reporting over the study period, or unusual epidemiology. YLLs were computed as the product of the number of deaths for each cause-age-sex-location-year and the standard life expectancy at each age. As part of the modelling process, uncertainty intervals (UIs) were generated using the 2·5th and 97·5th percentiles from a 1000-draw distribution for each metric. We decomposed life expectancy by cause of death, location, and year to show cause-specific effects on life expectancy from 1990 to 2021. We also used the coefficient of variation and the fraction of population affected by 90% of deaths to highlight concentrations of mortality. Findings are reported in counts and age-standardised rates. Methodological improvements for cause-of-death estimates in GBD 2021 include the expansion of under-5-years age group to include four new age groups, enhanced methods to account for stochastic variation of sparse data, and the inclusion of COVID-19 and other pandemic-related mortality-which includes excess mortality associated with the pandemic, excluding COVID-19, lower respiratory infections, measles, malaria, and pertussis. For this analysis, 199 new country-years of vital registration cause-of-death data, 5 country-years of surveillance data, 21 country-years of verbal autopsy data, and 94 country-years of other data types were added to those used in previous GBD rounds. FINDINGS The leading causes of age-standardised deaths globally were the same in 2019 as they were in 1990; in descending order, these were, ischaemic heart disease, stroke, chronic obstructive pulmonary disease, and lower respiratory infections. In 2021, however, COVID-19 replaced stroke as the second-leading age-standardised cause of death, with 94·0 deaths (95% UI 89·2-100·0) per 100 000 population. The COVID-19 pandemic shifted the rankings of the leading five causes, lowering stroke to the third-leading and chronic obstructive pulmonary disease to the fourth-leading position. In 2021, the highest age-standardised death rates from COVID-19 occurred in sub-Saharan Africa (271·0 deaths [250·1-290·7] per 100 000 population) and Latin America and the Caribbean (195·4 deaths [182·1-211·4] per 100 000 population). The lowest age-standardised death rates from COVID-19 were in the high-income super-region (48·1 deaths [47·4-48·8] per 100 000 population) and southeast Asia, east Asia, and Oceania (23·2 deaths [16·3-37·2] per 100 000 population). Globally, life expectancy steadily improved between 1990 and 2019 for 18 of the 22 investigated causes. Decomposition of global and regional life expectancy showed the positive effect that reductions in deaths from enteric infections, lower respiratory infections, stroke, and neonatal deaths, among others have contributed to improved survival over the study period. However, a net reduction of 1·6 years occurred in global life expectancy between 2019 and 2021, primarily due to increased death rates from COVID-19 and other pandemic-related mortality. Life expectancy was highly variable between super-regions over the study period, with southeast Asia, east Asia, and Oceania gaining 8·3 years (6·7-9·9) overall, while having the smallest reduction in life expectancy due to COVID-19 (0·4 years). The largest reduction in life expectancy due to COVID-19 occurred in Latin America and the Caribbean (3·6 years). Additionally, 53 of the 288 causes of death were highly concentrated in locations with less than 50% of the global population as of 2021, and these causes of death became progressively more concentrated since 1990, when only 44 causes showed this pattern. The concentration phenomenon is discussed heuristically with respect to enteric and lower respiratory infections, malaria, HIV/AIDS, neonatal disorders, tuberculosis, and measles. INTERPRETATION Long-standing gains in life expectancy and reductions in many of the leading causes of death have been disrupted by the COVID-19 pandemic, the adverse effects of which were spread unevenly among populations. Despite the pandemic, there has been continued progress in combatting several notable causes of death, leading to improved global life expectancy over the study period. Each of the seven GBD super-regions showed an overall improvement from 1990 and 2021, obscuring the negative effect in the years of the pandemic. Additionally, our findings regarding regional variation in causes of death driving increases in life expectancy hold clear policy utility. Analyses of shifting mortality trends reveal that several causes, once widespread globally, are now increasingly concentrated geographically. These changes in mortality concentration, alongside further investigation of changing risks, interventions, and relevant policy, present an important opportunity to deepen our understanding of mortality-reduction strategies. Examining patterns in mortality concentration might reveal areas where successful public health interventions have been implemented. Translating these successes to locations where certain causes of death remain entrenched can inform policies that work to improve life expectancy for people everywhere. FUNDING Bill & Melinda Gates Foundation

"From History to literature and from literature to life" : a comparative study of seven European contemporary novels.

Le but de cette recherche qui de déplie en trois parties est de montrer comment l’Histoire en tant que champ cognitif peut, par l’intermédiaire de l’art romanesque, dévoiler des vérités profondes concernant la vie et la pensée contemporaine. Plus précisément, dans le cadre de la première partie, en traçant d’abord brièvement le portrait du roman historique classique, nous présentons sept romans européens de notre époque qui ont comme thématique commune des grands événements historiques. Nous expliquons de quelle époque traite chacun d’eux et quels lieux ils présentent comme lieux d’action de leurs histoires ; nous commentons alors la signification historique majeure du temps et de l’espace choisis. Par la suite, nous mettons l’accent sur les personnages romanesques de notre corpus dans le but de découvrir comment leur appartenance à une époque historique précise influence leur existence et comment surgit conséquemment le besoin de déchiffrer leur monde. De plus, nous nous intéressons à la relation éprouvée entre la puissance de la mémoire, qui hante les personnages se battant pour se réconcilier avec elle, et la construction de leur identité narrative, une identité tant individuelle que collective. Finalement, dans une dernière partie, nous tentons de faire le lien entre le temps de chaque roman et la structure narrative que son écrivain a choisie en suggérant qu’il joue un rôle considérable dans le processus de réception de la littérature. Cette dernière occupera ensuite notre réflexion : nous nous interrogerons donc sur les paramètres qui déterminent la façon dont l’écrivain et le lecteur perçoivent effectivement ces œuvres littéraires.The purpose of this research, divided in three parts, is to show how History, as cognitive field, can reveal deep truths of contemporary life and thought through the art of novel. More precisely, in the first part, after briefly drawing the portrait of classic historical novel, we present seven modern novels that have as common ground important historical facts. We explain which time each novel deals with and which places it presents as sites of action of its story. We comment, as well, on the considerable historical meaning of the chosen times and places. Afterwards, we focus on the fictional characters of our corpus so as to discover how their belonging to a precise historical time influences their existence and how, consequently, the need to fathom out their world is provoked. Furthermore, we are interested in the proven relation between the power of memory that haunts the characters who are fighting so as to be reconciled with it and the construction of narrative identity, equally individual and collective. Finally, in the last part, we try to show the connection between the time of each novel and the narrative structure that each writer has chosen for it by suggesting the importance of its role in the process of the literary reception. The latter will subsequently make us wonder about the parameters that determine the way the writer and the reader receive effectively these literary works

Molecular tumor markers in colorectal cancer, breast cancer and prostate cancer: cell free DNA and RNA in plasma, methylation and the role of 14-3-3 proteins

Scope: In this study we examined several molecular markers in cancer patients and in normal individuals. The present study was focused in the study of molecular markers in the diagnosis of various neoplasias such as brain tumors, prostate, breast and gastric cancers. The markers tested were: 1. RNA markers: a. PSMA mRNA in blood samples ofprostate cancer patients. b. CEA mRNA in blood samples ofprostate and gastric cancer patients. c. 14-3-3σ mRNA in patients with lung, breast and prostate cancer as well as in leukemias. 2. DNA markers: a. DNA quantification in plasma samples of patients with prostate, breast and gastric cancer. b. Méthylation status in the promoter region ofthe following genes: I. MGMT II. 14-3-30 III. GSTP1 IV. RASSFla V. ATM. The méthylation pattern ofthese genes was tested in tissues and/or peripheral blood of cancer patients. Methods: DNA quantification in plasma was performed using real-time PCR and the DNA DipStick™ Kit. We then assessed the méthylation status ofMGMT, 14-3-3o and GSTP1 in plasma DNA using MSP (Methylation-specific PCR) assay, while the méthylation status ofRASSF1A and ATM genes was examined by the MethyLight technology. RT-PCR analysis was used for the detection of PSMA and CEA RNA. Results: DNA molecular markers were detected in increased percentages of cancerpatients. Important rates of detection were observed for the quantification of DNA in plasma and for the méthylation status of GSTP1, RASSF1A και ATM genes. 58.3% of newly diagnosed prostate cancer patients and 26.7% of prostate cancer patients under therapy had increased plasma DNA levels. Additionally, 48.5% of breast cancer patients showed plasma DNA levels above the cut-off limit. GSTP1 promoter hyperméthylation was detectable in 75% of plasma samples obtained from patients with newly diagnosed prostate cancer and in 36.8% ofpatients under therapy, whereas26% and 14% of the breast cancer patients tested were positive for RASSF1A and ATM méthylation respectively. Detection of RNA molecular markers was found in smaller percentages in the blood of cancer patients. Conclusion: The combination of DNA load and genes promoter méthylation statuscould be a new non invasive approach for early detection of both prostate and breast cancer.Σκοπός: Τα εξωκυτταρικά νουκλεϊνικά οξέα θα μπορούσαν να χρησιμοποιηθούν ως μοριακοί δείκτες στην έγκαιρη ανίχνευση του καρκίνου και στην πρόβλεψη της έκβασης της νόσου. Η παρούσα διδακτορική διατριβή επικεντρώθηκε στη μελέτη της χρησιμότητας των μοριακών δεικτών στην διάγνωση διαφόρων νεοπλασιών όπως οι καρκίνοι του προστάτη, του μαστού και του γαστρεντερικού συστήματος. Μελετήθηκαν οι εξής καρκινικοί δείκτες: 1. RNA δείκτες: a. PSMA mRNA στο αίμα ασθενών με καρκίνο του προστάτη. b. CEA mRNA στο αίμα ασθενών με νεοπλασίες του γαστρεντερικού συστήματος και του προστάτη. c. Ανίχνευση mRNA του 14-3-3σ σε ασθενείς με καρκίνους του πνεύμονα, μαστού, προστάτη και σε λευχαιμίες. 2. DNA δείκτες: a. Ποσοτικοποίηση του φορτίου DNA στο πλάσμα ασθενών με καρκίνο του προστάτη, του μαστού και του γαστρεντερικού συστήματος. b. Ανίχνευση της μεθυλίωσης στους υποκινητές των γονιδίων: I. MGMT II. 14-3-3σ III. GSTP1 IV. RASSFla V. ATM. Η μεθυλίωση στα παραπάνω γονίδια μελετήθηκε σε περιφερικό αίμα ή/και ιστούς ασθενών με καρκίνο. Μέθοδοι: To DNA πλάσμιατος ποσοτικοποιήθηκε χρησιμοποιώντας τη μέθοδο PCR πραγματικού χρόνου (Real Time PCR) καθώς και τη τυποποιημένη συσκευασία δοκιμασίας DNA DipStick™. Ελέγχθηκε επίσης η μεθυλίωση των γονιδίων MGMT, 14-3-3σ και GSTP1 χρησιμοποιώντας την ειδική για τη μεθυλίωση PCR (MéthylationSpecific PCR ή MSP), ενώ η μεθυλίωση στα γονίδια RASSF1A και του ATM στο πλάσμα ελέγχθηκε χρησιμοποιώντας τη τεχνολογία MethyLight. Η μέθοδος RT-PCR χρησιμοποιήθηκε για την ανίχνευση των PSMA και CEA mRNA. Αποτελέσματα: Οι DNA μοριακοί δείκτες ανιχνεύθηκαν σε αυξημένα ποσοστά ασθενών με καρκίνο. Σημαντικά ποσοστά ανίχνευσης παρατηρήθηκαν για τη ποσοτικοποίηση του DNA στο πλάσμα και για την μεθυλίωση στα γονίδια GSTP1, RASSF1A και ATM. Πιο συγκεκριμένα, στο 58.3% των ασθενών με πρόσφατα διαγνωσθέντα καρκίνο του προστάτη και στο 21% των ασθενών υπό θεραπεία, παρατηρήθηκε αύξηση της συγκέντρωσης του DNA στο πλάσμα. Επιπλέον, το 48.5% των ασθενών με καρκίνο του μαστού και το 62.5% των ασθενών με καρκίνο γαστρεντερικού συστήματος παρουσίασαν αυξημένες τιμές στο εξωκυτταρικό DNA.Υπερμεθυλίωση στον υποκινητή του γονιδίου GSTP1 ανιχνεύθηκε στο 75% των δειγμάτων πλάσματος που λήφθηκαν από ασθενείς με πρόσφατα διαγνωσθέντα καρκίνο του προστάτη και στο 37% των ασθενών υπό θεραπεία. Υπερμεθυλίωση στους υποκινητές των γονιδίων RASSF1A και ATM παρατηρήθηκε στο 26% και 14% αντίστοιχα των ασθενών με καρκίνο μαστού. Ανίχνευση RNA μοριακών δεικτών βρέθηκε σε μικρότερα ποσοστά στο αίμα ασθενών με καρκίνο. Συμπέρασμα: Ο συνδυασμός της μέτρησης του φορτίου DNA και της ανάλυσης της μεθυλίωσης στους υποκινητές γονιδίων θα μπορούσε να είναι μία νέα μη επεμβατική προσέγγιση για την πρώιμη ανίχνευση του καρκίνου του προστάτη και του μαστού

Rural development policy delivery and governance in Greece

The main purpose of this research is focused on understanding the politico-administrative system and structure of rural policy implementation in the third programming period (2000-2006). Case studies have been conducted for selected measures of the Greek Rural Development Programme (RDP) and LEADER+ initiative. In-depth interviews were conducted with officials involved in the rural development policy implementation. Inflexibility due to centralization, lack of personnel motivation and inadequacy of the personnel involved in policy implementation are the main weaknesses. Work seasonal overload is also a weakness, which can be caused by peak periods or by too many and in part possibly unnecessary documents, official permissions and other legal or administrative obligations. The administrative personnel should be better motivated by financial bonus and properly trained. A central integrated database, accessible to all administrative levels and units, should also be designed. Such changes could lead to a smoother decentralisation process because in some cases centralisation is considered to cause communication obstacles, work overload and delays