Differences of mentally ill patients’ satisfaction degree during their involuntary or voluntary stay in a psychiatric clinic

Background: Mental health illness is not considered as a private matter, as it affects not only the mental patient's life and those who are considered his/her immediate family, but also the society as a whole. The involuntary examination and/or hospitalization in the field of mental health as the basic first-line therapeutic solution in Greece, calls for an immediate intervention, which is supposed to counterbalance the need for therapy and patient's rights of personal freedom and safety.Design and methods: A research using questionnaire was realized, consisting of 100 hospitalized patients in psychiatric clinics (50 voluntarily and 50 involuntarily hospitalized) at the Psychiatric Hospital of Attica. The sampling scheme was the stratified sampling and the level of statistical significance was set to α=0.05.Results: The results have shown that involuntarily and voluntarily hospitalized mental patients did not differ significantly with almost the entirety of the questionnaire; however, the involuntary patients were significantly more satisfied with the conditions of hospitalization as well as assessing the overall quality of the services provided during their hospitalization.Conclusions: For mentally ill patients, greater importance and stronger correlation with gratification, does not constitute the admission procedure to the psychiatric clinic but the development of effective communication and therapeutic relationship with the staff, full knowledge and update about patient’s health condition, medication, participation in therapeutic planning and hospitalization in a regime of autonomy and respect for their rights

Implication of oxidative lesions and base excision repair in the tissue selectivity of the somatic instability of CAG repeats in Huntington’s diseease

La maladie de Huntington (MH) est une maladie neurodégénérative fatale, causée par l’expansion des répétitions CAG du gène de Huntingtine. La longueur de l’expansion est instable et proportionnelle à la gravité de la maladie. L’instabilité varie selon les tissus, p.ex. le striatum est très instable et dégénère, alors que le cervelet a une instabilité limitée et est épargné par la maladie. Nous avons étudié le rôle des lésions oxydantes et du mécanisme de réparation par excision de base (BER) dans la sélectivité tissulaire de l'instabilité dans ces deux tissus de souris R6/1. Le niveau des lésions était similaire dans ces tissus, alors que les niveaux et les activités des principales protéines BER étaient globalement diminués dans le striatum. L’efficacité de réparation dépendait de la stoechiométrie de BER, la position de la lésion et la séquence d’ADN. Nos résultats suggèrent une faible coopération entre les activités BER associée à la spécificité tissulaire de l’instabilité de la MH.Huntington’s disease (HD) is a neurodegenerative fatal disease caused by the expansion of CAG repeats in the Huntingtin gene. The expansion length is unstable and proportional to the disease severity. The instability affects differently several tissues, among which the striatum that shows a high instability and degenerates, whereas the cerebellum that shows limited instability is spared from the disease. We addressed the role of oxidative lesions and Base Excision Repair (BER) in the tissue-selectivity of the instability in striatum and cerebellum of R6/1 mouse model. Interestingly, we observed a similar level of oxidative lesions at both tissues. Levels and activities of main BER proteins were globally decreased in striatum relative to cerebellum. Moreover we found that repair outcome is dependent upon BER stoichiometries, lesion location and sequence. Our results suggest a poor cooperation between BER activities that could underlie tissue-specificity of somatic instability in HD

Implication des lésions oxydantes et du mécanisme de réparation par excision de base dans la sélectivité tissulaire de l'instabilité somatique des répétitions CAG dans la maladie de Huntington

Huntington’s disease (HD) is a neurodegenerative fatal disease caused by the expansion of CAG repeats in the Huntingtin gene. The expansion length is unstable and proportional to the disease severity. The instability affects differently several tissues, among which the striatum that shows a high instability and degenerates, whereas the cerebellum that shows limited instability is spared from the disease. We addressed the role of oxidative lesions and Base Excision Repair (BER) in the tissue-selectivity of the instability in striatum and cerebellum of R6/1 mouse model. Interestingly, we observed a similar level of oxidative lesions at both tissues. Levels and activities of main BER proteins were globally decreased in striatum relative to cerebellum. Moreover we found that repair outcome is dependent upon BER stoichiometries, lesion location and sequence. Our results suggest a poor cooperation between BER activities that could underlie tissue-specificity of somatic instability in HD.La maladie de Huntington (MH) est une maladie neurodégénérative fatale, causée par l’expansion des répétitions CAG du gène de Huntingtine. La longueur de l’expansion est instable et proportionnelle à la gravité de la maladie. L’instabilité varie selon les tissus, p.ex. le striatum est très instable et dégénère, alors que le cervelet a une instabilité limitée et est épargné par la maladie. Nous avons étudié le rôle des lésions oxydantes et du mécanisme de réparation par excision de base (BER) dans la sélectivité tissulaire de l'instabilité dans ces deux tissus de souris R6/1. Le niveau des lésions était similaire dans ces tissus, alors que les niveaux et les activités des principales protéines BER étaient globalement diminués dans le striatum. L’efficacité de réparation dépendait de la stoechiométrie de BER, la position de la lésion et la séquence d’ADN. Nos résultats suggèrent une faible coopération entre les activités BER associée à la spécificité tissulaire de l’instabilité de la MH

Implication of oxidative lesions and base excision repair in the tissue selectivity of the somatic instability of CAG repeats in Huntington’s diseease

La maladie de Huntington (MH) est une maladie neurodégénérative fatale, causée par l’expansion des répétitions CAG du gène de Huntingtine. La longueur de l’expansion est instable et proportionnelle à la gravité de la maladie. L’instabilité varie selon les tissus, p.ex. le striatum est très instable et dégénère, alors que le cervelet a une instabilité limitée et est épargné par la maladie. Nous avons étudié le rôle des lésions oxydantes et du mécanisme de réparation par excision de base (BER) dans la sélectivité tissulaire de l'instabilité dans ces deux tissus de souris R6/1. Le niveau des lésions était similaire dans ces tissus, alors que les niveaux et les activités des principales protéines BER étaient globalement diminués dans le striatum. L’efficacité de réparation dépendait de la stoechiométrie de BER, la position de la lésion et la séquence d’ADN. Nos résultats suggèrent une faible coopération entre les activités BER associée à la spécificité tissulaire de l’instabilité de la MH.Huntington’s disease (HD) is a neurodegenerative fatal disease caused by the expansion of CAG repeats in the Huntingtin gene. The expansion length is unstable and proportional to the disease severity. The instability affects differently several tissues, among which the striatum that shows a high instability and degenerates, whereas the cerebellum that shows limited instability is spared from the disease. We addressed the role of oxidative lesions and Base Excision Repair (BER) in the tissue-selectivity of the instability in striatum and cerebellum of R6/1 mouse model. Interestingly, we observed a similar level of oxidative lesions at both tissues. Levels and activities of main BER proteins were globally decreased in striatum relative to cerebellum. Moreover we found that repair outcome is dependent upon BER stoichiometries, lesion location and sequence. Our results suggest a poor cooperation between BER activities that could underlie tissue-specificity of somatic instability in HD

Μελέτη και αξιολόγηση της απόδοσης μεταγωγού ικριώματος (Top of Rack-ToR) για οπτικά κέντρα δεδομένων με λειτουργία πολλαπλής πρόσβασης διαίρεσης χρόνου (TDMA)

Η συνεχώς αυξανόμενη κίνηση στα κέντρα δεδομένων (Data Centers) και η μετάβαση των πληροφοριακών συστημάτων από την τοπική στην κεντρική υποδομή δημιουργούν την ανάγκη για πλήρη αξιοποίηση των κέντρων δεδομένων, καθιστώντας κατ’ επέκταση τις πτυχές δικτύωσής τους καίριας σημασίας και ωθώντας, τόσο στην ανάγκη εκτενέστερης χρήσης της οπτικής τεχνολογίας, όσο και σε νέες αρχιτεκτονικές δικτύου στα Data Centers (κέντρα δεδομένων, DCs). Νέες τεχνικές σχεδιασμού και διαχείρισης Data Centers προς την κατεύθυνση αυτή βρίσκονται σήμερα υπό έρευνα και εξέλιξη, στα πλαίσια εξάλειψης των μειονεκτημάτων της τοπολογίας των υφιστάμενων δικτύων, καθώς οι ιεραρχικές τοπολογίες δικτύου δεν είναι οι καταλληλότερες για τα Data Centers, δεδομένου ότι η περισσότερη κίνηση πραγματοποιείται μεταξύ των άκρων (east-west) και όχι από το κέντρο προς τα άκρα (north-south traffic) του ιεραρχικού δικτύου. Μια νέα προσέγγιση σχεδιασμού προήλθε από την αρχιτεκτονική του ερευνητικού έργου NEPHELE. Η αρθρωτή (modular) αρχιτεκτονική NEPHELE βασίζεται σε point of delivery (pod).Το pod στο δίκτυο NEPHELE αποτελείται από ικριώματα (racks),όπου σε κάθε ικρίωμα περιέχονται οι “innovation zones”, που περιέχουν τους διαχωριζόμενους πόρους υπολογισμού, αποθήκευσης και μνήμης του disaggregated-DC και οι οποίες συνδέονται μέσω των Network Interface Controllers (NICs) στον αντίστοιχο Top of Rack (ToR) μεταγωγέα. Μέσω των ToRs, οι innovation zones επικοινωνούν με το υψηλότερο επίπεδο των POD μεταγωγέων καθώς και με οποιαδήποτε άλλη innovation zone. Η εργασία επικεντρώνεται σε έναν υβριδικό ηλεκτρικό / οπτικό (ToR) μεταγωγέα μέσω του οποίου επιτυγχάνεται οπτική μεταγωγή της κίνησης τόσο στο ανώτερο επίπεδο (των Pod μεταγωγέων) του Data Center όσο και στο επίπεδο rack. Η αρχιτεκτονική του υβριδικού ToR είναι βασισμένη σε έναν κλασσικού τύπου μεταγωγέα Ethernet και σε FPGA-implemented port extenders, τοποθετημένους στις southbound και northbound θύρες του μεταγωγέα Ethernet ώστε, να πραγματοποιούν όλες τις απαιτούμενες πρόσθετες λειτουργίες για την Time Division Multiple Access (TDMA) οπτική μεταγωγή. Ο υβριδικός ToR μεταγωγέας παρέχει δύο τύπους διεπαφών για τη southbound επικοινωνία (προς τις innovation zones), συγκεκριμένα τις παραδοσιακές (legacy) Ethernet θύρες και τις αμιγώς-οπτικές (all-optical) TDMA θύρες. Για τη northbound επικοινωνία υπάρχουν ισάριθμες προς τη southbound επικοινωνία, θύρες. Τέλος, στην εργασία παρουσιάζονται οι πιο χαρακτηριστικές μετρικές για την αξιολόγηση της απόδοσης των intra-DCs δικτύων.The continuously increasing traffic in data centers as well as the shift from local to centralized Information Technology (IT) infrastructure create the need to fully harness the data center, making consequently the networking aspects of Data Centers major importance and leading both to use photonic technology as well as new network architectures for Data Centers (DCs). Today’s research focuses on new design techniques and management for Data Centers in an effort to eliminate the disadvantages of existing network hierarchical topologies. The hierarchical topologies used up to these days are not the most suitable for DCs, given the fact, that the type of traffic flowing in DCs is mostly east-west traffic instead of north-south. A new DC design approach is developed by the NEPHELE project. The NEPHELE modular architecture is based on point of delivery (pod) switches. In the NEPHELE network a pod consists of racks. Each rack contains the “innovation zones”, which include disaggregated computing, storage and memory resources of the disaggregated-DC and they are connected through Network interface controllers (NICs) to the corresponding NEPHELE Top of rack (ToR) switch. The ToR interconnects the innovation zones with the higher network tier (POD switches) and through ToR can also be connected to any other innovation zone. This thesis focused on a hybrid electrical/optical ToR switch, that enables optical switching of traffic both in the Data Center’s upper layer (POD switches) and at the rack level. The hybrid ToR architecture is based on a legacy Ethernet switch and FPGA-implemented port extenders, placed at the southbound and northbound ports of the Ethernet switch in order to realize all the required additional functionality for the TDMA optical switching. The hybrid ToR provides two types of interfaces for southbound communication (towards the innovation zones) namely standard (“legacy”) Ethernet ports and all-optical TDMA ports. For northbound communication there are equal, to the southbound communication, ports. Finally, this thesis presents the most characteristic metrics for evaluation of the performance of intra-DCs networks

Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism

More than fifteen genetic diseases, including Huntington’s disease, myotonic dystrophy 1, fragile X syndrome and Friedreich ataxia, are caused by the aberrant expansion of a trinucleotide repeat. The mutation is unstable and further expands in specific cells or tissues with time, which can accelerate disease progression. DNA damage and base excision repair (BER) are involved in repeat instability and might contribute to the tissue selectivity of the process. In this review, we will discuss the mechanisms of trinucleotide repeat instability, focusing more specifically on the role of BER

Implication of oxidative lesions and base excision repair in the tissue selectivity of the somatic instability of CAG repeats in Huntington s diseease

La maladie de Huntington (MH) est une maladie neurodégénérative fatale, causée par l expansion des répétitions CAG du gène de Huntingtine. La longueur de l expansion est instable et proportionnelle à la gravité de la maladie. L instabilité varie selon les tissus, p.ex. le striatum est très instable et dégénère, alors que le cervelet a une instabilité limitée et est épargné par la maladie. Nous avons étudié le rôle des lésions oxydantes et du mécanisme de réparation par excision de base (BER) dans la sélectivité tissulaire de l'instabilité dans ces deux tissus de souris R6/1. Le niveau des lésions était similaire dans ces tissus, alors que les niveaux et les activités des principales protéines BER étaient globalement diminués dans le striatum. L efficacité de réparation dépendait de la stoechiométrie de BER, la position de la lésion et la séquence d ADN. Nos résultats suggèrent une faible coopération entre les activités BER associée à la spécificité tissulaire de l instabilité de la MH.Huntington s disease (HD) is a neurodegenerative fatal disease caused by the expansion of CAG repeats in the Huntingtin gene. The expansion length is unstable and proportional to the disease severity. The instability affects differently several tissues, among which the striatum that shows a high instability and degenerates, whereas the cerebellum that shows limited instability is spared from the disease. We addressed the role of oxidative lesions and Base Excision Repair (BER) in the tissue-selectivity of the instability in striatum and cerebellum of R6/1 mouse model. Interestingly, we observed a similar level of oxidative lesions at both tissues. Levels and activities of main BER proteins were globally decreased in striatum relative to cerebellum. Moreover we found that repair outcome is dependent upon BER stoichiometries, lesion location and sequence. Our results suggest a poor cooperation between BER activities that could underlie tissue-specificity of somatic instability in HD.STRASBOURG-Bib.electronique 063 (674829902) / SudocSudocFranceF

Syndromic and Monogenic Obesity: New Opportunities Due to Genetic-Based Pharmacological Treatment

Obesity is a significant health problem with a continuously increasing prevalence among children and adolescents that has become a modern pandemic during the last decades. Nowadays, the genetic contribution to obesity is well-established. For this narrative review article, we searched PubMed and Scopus databases for peer-reviewed research, review articles, and meta-analyses regarding the genetics of obesity and current pharmacological treatment, published in the English language with no time restrictions. We also screened the references of the selected articles for possible additional articles in order to include most of the key recent evidence. Our research was conducted between December 2022 and December 2023. We used the terms “obesity”, “genetics”, “monogenic”, “syndromic”, “drugs”, “autosomal dominant”, “autosomal recessive”, “leptin-melanocortin pathway”, and “children” in different combinations. Recognizing the genetic background in obesity can enhance the effectiveness of treatment. During the last years, intense research in the field of obesity treatment has increased the number of available drugs. This review analyzes the main categories of syndromic and monogenic obesity discussing current data on genetic-based pharmacological treatment of genetic obesity and highlighting the necessity that cases of genetic obesity should follow specific, pharmacological treatment based on their genetic background

Transcription Elongation and Tissue-Specific Somatic CAG Instability

International audienceThe expansion of CAG/CTG repeats is responsible for many diseases, including Huntington's disease (HD) and myotonic dystrophy 1. CAG/CTG expansions are unstable in selective somatic tissues, which accelerates disease progression. The mechanisms underlying repeat instability are complex, and it remains unclear whether chromatin structure and/or transcription contribute to somatic CAG/CTG instability in vivo. To address these issues, we investigated the relationship between CAG instability, chromatin structure, and transcription at the HD locus using the R6/1 and R6/2 HD transgenic mouse lines. These mice express a similar transgene, albeit integrated at a different site, and recapitulate HD tissue-specific instability. We show that instability rates are increased in R6/2 tissues as compared to R6/1 matched-samples. High transgene expression levels and chromatin accessibility correlated with the increased CAG instability of R6/2 mice. Transgene mRNA and H3K4 trimethylation at the HD locus were increased, whereas H3K9 dimethylation was reduced in R6/2 tissues relative to R6/1 matched-tissues. However, the levels of transgene expression and these specific histone marks were similar in the striatum and cerebellum, two tissues showing very different CAG instability levels, irrespective of mouse line. Interestingly, the levels of elongating RNA Pol II at the HD locus, but not the initiating form of RNA Pol II, were tissue-specific and correlated with CAG instability levels. Similarly, H3K36 trimethylation, a mark associated with transcription elongation, was specifically increased at the HD locus in the striatum and not in the cerebellum. Together, our data support the view that transcription modulates somatic CAG instability in vivo. More specifically, our results suggest for the first time that transcription elongation is regulated in a tissue-dependent manner, contributing to tissue-selective CAG instability

The Nucleotide Sequence, DNA Damage Location, and Protein Stoichiometry Influence the Base Excision Repair Outcome at CAG/CTG Repeats

International audienc