Restless legs syndrome/Willis–Ekbom disease prevalence in beta thalassemia patients

Purpose Both beta thalassemia and restless legs syndrome (RLS) patients share some common pathophysiological characteristics related to iron handling. In the present study, the aim was to explore the prevalence of RLS as well as to explore potential association between the syndrome and various quality of life-related parameters in a sample of beta thalassemia patients. Methods One hundred fourteen (age 40 ± 11 yr, 59 M/55F) beta thalassemia patients participated in this cross-sectional descriptive study. Patients were screened for RLS based on the international RLS study group diagnostic criteria as well as a battery of validated questionnaires. Results The prevalence of RLS in this sample of beta thalassemia patients was zero. The quality of life score was low (78 ± 18). Iron levels were within normal range (191 ± 66 mcg/dL) while ferritin levels were high as expected (1836 ± 225 ng/dL). Conclusions Our sample of patients comes from central Greece where the prevalence of RLS in the general population is 4% while in renal failure patients is 27%. To our surprise, there was no presence of RLS among this sample of beta thalassemia patients. The adequate levels of iron and ferritin often seen in these patients could be the reason of the absence of RLS symptoms

Reliability and clinical applicability of lower limp strength using an enhanced paper grip strength

The enhanced paper grip test (EGPT) quantitatively assesses lower limb strength. EGPT assesses the hallux grip force by reacting a pulling force derived from a card, being positioned underneath the participant's hallux. This study aimed to investigate the repeatability and clinical applicability of the EPGT for assessing foot muscle strength. EPGT force was measured using a dynamometer. The reliability of the measurement of EPGT force was assessed by having two examiners performing the test on the same group of healthy adults. Clinical applicability was assessed in community-dwelling adults of both genders. EPGT force was recorded for both feet using the same standardised protocol for all participants. Regarding reliability, 20 healthy adults aged 23.04±5.5 years participated in the present study. The EGPT demonstrated good to excellent test-retest (ICC1,2 0.8 to 0.86) and interrater reliability (ICC1,2 0.82 to 0.88). A convenience sample of 15 community-dwelling adults (71.6±7.8 years, 68.5% women) was recruited for clinical applicability testing. All participants performed the test with mean score 15±5.7 N. EPGT is a reliable measurement of the hallux grip force strength and can be used for clinical and research purposes

Frailty: future prospectives in rehabilitation medicine.

Modern rehabilitation is based on the International Classification of Functioning, Disability and Health (ICF). We will discuss this Classification process in frailty. Frailty is defined as a condition of reduced functional reserve, a state of vulnerability that involves poor recovery of homeostasis and increased susceptibility to stressor mechanisms, with consequent difficulty in returning to the previous condition of balance. Rehabilitation of frailty is reported in the ICF, although, its consensus is not sufficiently addressed due to its recent identification and the limited available information regarding how it should be formulated. Thus, the aim of the present article is to present the current evidence-based rehabilitation strategies applied in management of frailty

Perampanel as precision therapy in rare genetic epilepsies

OBJECTIVE: Perampanel, an antiseizure drug with α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antagonist properties, may have a targeted effect in genetic epilepsies with overwhelming glutamate receptor activation. Epilepsies with loss of γ-aminobutyric acid inhibition (e.g., SCN1A), overactive excitatory neurons (e.g., SCN2A, SCN8A), and variants in glutamate receptors (e.g., GRIN2A) hold special interest. We aimed to collect data from a large rare genetic epilepsy cohort treated with perampanel, to detect possible subgroups with high efficacy. METHODS: This multicenter project was based on the framework of NETRE (Network for Therapy in Rare Epilepsies), a web of pediatric neurologists treating rare epilepsies. Retrospective data from patients with genetic epilepsies treated with perampanel were collected. Outcome measures were responder rate (50% seizure reduction), and percentage of seizure reduction after 3 months of treatment. Subgroups of etiologies with high efficacy were identified. RESULTS: A total of 137 patients with 79 different etiologies, aged 2 months to 61 years (mean = 15.48 ± 9.9 years), were enrolled. The mean dosage was 6.45 ± 2.47 mg, and treatment period was 2.0 ± 1.78 years (1.5 months-8 years). Sixty-two patients (44.9%) were treated for >2 years. Ninety-eight patients (71%) were responders, and 93 (67.4%) chose to continue therapy. The mean reduction in seizure frequency was 56.61% ± 34.36%. Sixty patients (43.5%) sustained >75% reduction in seizure frequency, including 38 (27.5%) with >90% reduction in seizure frequency. The following genes showed high treatment efficacy: SCN1A, GNAO1, PIGA, PCDH19, SYNGAP1, POLG1, POLG2, and NEU1. Eleven of 17 (64.7%) patients with Dravet syndrome due to an SCN1A pathogenic variant were responders to perampanel treatment; 35.3% of them had >90% seizure reduction. Other etiologies remarkable for >90% reduction in seizures were GNAO1 and PIGA. Fourteen patients had a continuous spike and wave during sleep electroencephalographic pattern, and in six subjects perampanel reduced epileptiform activity. SIGNIFICANCE: Perampanel demonstrated high safety and efficacy in patients with rare genetic epilepsies, especially in SCN1A, GNAO1, PIGA, PCDH19, SYNGAP1, CDKL5, NEU1, and POLG, suggesting a targeted effect related to glutamate transmission

Perampanel as Precision Therapy in Rare Genetic Epilepsies

Objective: Perampanel, an antiseizure drug with AMPA-receptor antagonist properties, may have a targeted effect in genetic epilepsies with overwhelming glutamate receptor activation. Special interest holds epilepsies with loss of GABA inhibition (e.g. SCN1A), overactive excitatory neurons (e.g. SCN2A, SCN8A ), and variants in glutamate receptors (e.g. GRIN2A). We aimed to collect data from a large rare genetic epilepsy cohort treated with perampanel, to detect possible subgroups with high efficacy. Methods: A multicenter project based on the framework of NETRE (Network for Therapy in Rare Epilepsies), a web of pediatric neurologists treating rare epilepsies. Retrospective data from patients with genetic epilepsies treated with perampanel was collected. Outcome measures were responder rate (50% seizure reduction), and percentage of seizure reduction after 3 months of treatment. Subgroups of etiologies with high efficacy were identified. Results: 137 patients, with 79 different etiologies, aged 2 months-61 years (mean 15.48±9.9) were enrolled. The mean dosage was 6.45±2.47 mg, and treatment period was 2.0±1.78 years (1.5 months-8 years). 62 patients (44.9%) were treated for >2 years. 98 patients (71%) were responders, and 93 (67.4%) chose to continue therapy. The mean reduction in seizure frequency was 56.61±34.36%. 60 patients (43.5%) sustained over 75% reduction in seizure frequency, including 38 (27.5%) with > 90% reduction in seizure frequency. The following genes showed high treatment efficacy: SCN1A, GNAO1, PIGA, PCDH19, SYNGAP1, POLG1, POLG2, NEU1. 11/17 (64.7%) of patients with SCN1A, 35.3% of which had over 90% seizure reduction. Other etiologies remarkable for over 90% reduction in seizures were GNAO1 and PIGA. 14 patients had a CSWS EEG pattern and in 6 subjects perampanel reduced epileptiform activity. Significance: Perampanel demonstrated high safety and efficacy in patients with rare genetic epilepsies, especially in SCN1A, GNAO1, PIGA, PCDH19, SYNGAP1, CDKL5, NEU1 and POLG, suggesting a targeted effect related to glutamate transmission

Quality of life in sarcopenia measured with the SarQoL questionnaire: A meta-analysis of individual patient data.

peer reviewedAge-related sarcopenia, resulting from a gradual loss in skeletal muscle mass and strength, is pivotal to the increased prevalence of functional limitation among the older adult community. The purpose of this meta-analysis of individual patient data is to investigate the difference in health-related quality of life between sarcopenic individuals and those without the condition using the Sarcopenia Quality of Life (SarQoL) questionnaire. A protocol was published on PROSPERO. Multiple databases and the grey literature were searched until March 2023 for studies reporting quality of life assessed with the SarQoL for patients with and without sarcopenia. Two researchers conducted the systematic review independently. A two-stage meta-analysis was performed. First, crude (mean difference) and adjusted (beta coefficient) effect sizes were calculated within each database; then, a random effect meta-analysis was applied to pool them. Heterogeneity was measured using the Q-test and I2 value. Subgroup analyses were performed to investigate the source of potential heterogeneity. The strength of evidence of this association was assessed using GRADE. From the 413 studies identified, 32 were eventually included, of which 10 were unpublished data studies. Sarcopenic participants displayed significantly reduced health-related quality of life compared with non-sarcopenic individuals (mean difference = -12.32; 95 % CI = [-15.27; -9.37]). The model revealed significant heterogeneity. Subgroup analyses revealed a substantial impact of regions, clinical settings, and diagnostic criteria on the difference in health-related quality of life between sarcopenic and non-sarcopenic individuals. The level of evidence was moderate. This meta-analysis of individual patient data suggested that sarcopenia is associated with lower health-related quality of life measured with SarQoL

Debates on youth participation: from citizens in preparation to active social agents

Resumo Este artigo apresenta debates atuais sobre a presença da juventude na vida pública. Existe um rico debate e muitos questionamentos sobre o modo como os jovens decidem se engajar na vida pública, resultante do uso especial da palavra política nas discussões acadêmicas e sobre políticas públicas. O artigo está assim organizado: em primeiro lugar apresenta uma síntese dos princípios centrais do discurso do Declínio, e depois explicita como o discurso da Personalização salienta formas alternativas de engajamento. A seguir, é analisado o modo pelo qual os discursos focalizados no Contexto enfatizam o modo como os processos participativos de decisão se relacionam com a maneira de jovens conceituarem suas experiências cotidianas. O artigo conclui afirmando que a participação da juventude pode ser melhor entendida quando contextualizada nas experiências vividas no cotidiano.Abstract This article presents current debates regarding the presence of young people in the public domain. There is a wealth of discussion and perplexity regarding how young people choose to get active in the public domain that originates from the distinct use of the term political in academic and policy debates. This article will proceed in the following way: it will summarise the main tenets of the Decline discourse, it will present how the Personalisation discourse draw our attention to alternative ways of involvement, it will discuss how Context focused discourses highlight how participatory decision making relates to the ways young people conceptualise their daily lived experience, and concludes arguing that youth participation can be better understood when it is contextualised within everyday lived experience

Joining the adventure? Exploring young people’s experience within spaces for youth participation in the United Kingdom and Greece

Youth participation has gained increased prominence within recent policies and is expected to serve a number of agendas and aims including the empowerment of young people, the creation of future active citizens, the prevention of anti-social behaviour and the integration of youth into society. When young people’s involvement in participatory activities is discussed, it is often done on the basis of its expected outcomes, and more rarely in terms of how young people themselves make sense of and use existing opportunities. This study addresses this issue by focusing on how young people conceptualise participation, how they represent their experience within particular projects and how such experience relates to participatory policies. Drawing from different contexts - Greece and the UK - this thesis presents examples of how engagement with similar processes of participation is mediated through the environments within which young people shape their everyday lives. The particular values and strategies that the participants associated with their involvement allowed for commonalities to emerge across contexts. Such approaches to participation are summarised in three profiles, namely the professionals, visionaries and adventurers.In this study, young people’s perceptions of themselves as participants are often in stark contrast with policy frameworks which construct young participants as active citizens in the making in both countries. Processes within the explored spaces for participation were dominated by policy priorities, while minimal space was allowed for a type of deliberation which enables young people to affect the contexts within which their lives unfold. While young people were expected by policies to populate spaces for participation, there were examples of the participants making efforts to reinterpret/contextualise the meaning of participation according to their lived experience, to maintain a critical distance from funding bodies and to enlarge their repertoires

“Providing a Roof That Allows One to Dream of a Better Life”: A Case Study of Working with Families in Extreme Poverty

This paper presents a case study of a youth organisation working with families in extreme poverty and lack of adequate housing in Chile and Mexico. It initially describes the considerable structural changes that relate to the emergence of the organisation, and then discusses how across context case study research that draws from the interpretivist interactionist tradition was employed. In the main body it presents interventions that aim to provide families with temporary accommodation, social support, education, micro-credit opportunities, and legal support. The paper aims to contribute to a discussion concerning wider insights to be gained from context-specific approaches in working with families. The article highlights the need for policy and practice that approaches families as complex, dynamic and context specific entities that are re-configured through their networks and interpersonal interactions, and are subject to particular plays of power relations. Furthermore, it argues for practice that fosters family agency that is based on recognition of strengths, emotional and cognitive aspects of decision making as well as nurturing of hope

Association of exercise and quality of life parameters in patients with sarcopenia

Sarcopenia, defined as low muscle mass and low muscle function and/or reduced physical performance is a major public health consideration. It is characterized by a risk of adverse outcome, such as physical disability, mobility, falls, decline in quality of life and death. Τhe current PhD Thesis aimed to invstigate the exercise and quality of life among elderly with sarcopenia. In this PhD thesis 3 differents projects were performed. In the first project a systematic review was performed in order to invastigate the effects of exercise in patients with sarcopenia. Results show the beneficial effects of exercise but the quality of evidence was rather low. Furthermore, limited evidence exists regarding the intensity and the mode of exercise. In the second project we translated and cross culturaly adaptated the Sarcopenia Quality of Life Questionnaire – SarQoL into the Greek language. Overall, the results showed satisfactory psychometric characteristics of the translated Greek version of the SarQoL questionnaire. The test–retest reliability has been found to be excellent for the total score 0.96 (91% CI 0.95–0.97). Construct validity analyses have also showed that the SarQoL questionnaire has good correlations with various subscales of the two Quality of Life questionnaires used in the present study (SF- 36 and EQ-5D). The SarQoL Greek questionnaire is valid and reliable and can be used in Greek population in clinical practice and research.The aim of the third project (Randomized controlled trial) was to investigate the effects of a three-month group-based versus home-based exercise programme on muscular, functional/physical performance and quality of life (QoL) across 54 elderly with sarcopenia. We found that exercise intervention was effective in the amelioritataion of sarcopenia symptoms. However the group-based exercise programme compared to home-based exercise yielded significant improvements (p < 0.05) in muscle mass, muscle strength and physical performance at 12 and 24 weeks.In conclusion the current thesis provides novel and significant data in the field of sarcopenia. We have shown that both group based exercise and home based exercise programmes could be safely and effective for the reduction of sarcopenia symptoms and variables of quality of life. Finally the currents study provides evidence that participation in a structured and supervised group based exercise programme is more beneficial than the home-based programme. The former was superior in all diagnosticvariables for sarcopenia (skeletal muscle mass index, muscle strength, and physical performance) and, in addition to its cost effectiveness appears to be the optimal choice.Η σαρκοπενία είναι η ηλικιο-εξαρτώμενη απώλεια μυϊκής μάζας, μυϊκής δύναμης, και φυσικής απόδοσης. Σημαντικές συνέπειες της σαρκοπενίας αποτελούν τα προβλήματα ισορροπίας και ο αυξημένος κίνδυνος των πτώσεων, η μυϊκή αδυναμία, η απώλεια ανεξαρτησίας, η ανικανότητα και η μειωμένη ποιότητα ζωής. Σκοπός της παρούσας διδιακτορικής διατριβής είναι η συσχέτιση της θεραπευτικής άσκησης με παραμέτρους που επηρεάζουν την ποιότητα ζωής των ασθενών με χαρακτηριστικά σαρκοπενίας.Στην παρούσα διατριβή πραγματοποιήθηκαν 3 μελέτες. Στην πρώτη μελέτη πραγματοποιήθηκε συστηματική ανασκόπηση της βιβλιογραφίας για την επίδραση της άσκησης σε σαρκοπενικούς ασθενείς. Τα αποτελέσματα ανέδειξαν τα θεραπευτικά οφέλη της άσκησης, αλλά οι μελέτες δεν ήταν καλής μεθοδολογικής ποιότητας και κατεγράφηκαν κενά όσο αφορά την ένταση και την συχνότητα της άσκησης.Στην δεύτερη μελέτη πραγματοποιήθηκε η μετάφραση και διαπολιτισμική διασκευή του ερωτηματολογίου Sarcopenia Quality οf Life - SarQoL, το οποίο δεν υπήρχε στην ελληνική γλώσσα. Το ερωτηματολόγιο μεταφράστηκε με επιτυχία και κατέγραψε υψηλή αξιοπίστία (ICC 0.96, 95% CI 0.95–0.97). Σε σύγκριση με τα ερωτηματολόγια SF36 και EQ5D κατέγραψε υψηλή εγκυρότητα. Το ερωτηματολόγιο SarQoL είναι έγκυρο και αξιόπιστο και μπορεί να χρησιμοποιηθεί για κλινικούς και ερευνητικούς σκοπούς. Στην τρίτη μελέτη η οπoία ήταν μια τυχαιοποιημένη ελεγχόμενη μελέτη εξετάστηκε η επίδραση ενός τρίμηνου προγράμματος θεραπευτικής άσκησης (ομαδικής και στο σπίτι), σε παραμέτρους μυϊκής μάζας, δύναμης, φυσικής απόδοσης και ποιότητας ζωής σε 54 ηλικιωμένα άτομα με σαρκοπενία. Tα αποτελέσματα έδειξαν ότι τόσο η ομαδική άσκηση όσο και η άσκηση στο σπίτι μπορούν να μειώσουν τα συμπτώματα της σαρκοπενίας. Η ομαδική άσκηση εμφάνισε καλύτερα αποτελέσματα μετά από 12 εβδομάδες και μακροπρόθεσμα στις επαναμετρήσεις. Συμπερασματικά η παρούσα διδακτορική διατριβή παρουσιάζει για πρώτη φορά σημαντικά δεδομένα για την επίδραση της άσκησης σε διαφορετικές παραμέτρους σε άτομα με σαρκοπενία. Φάνηκε πως τόσο το ομαδικό πρόγραμμα θεραπευτικής άσκησης με επίβεψη όσο και η άσκηση στο σπίτι μπορεί να αποτελέσουν μια ασφαλή και αποτελεσματική προσέγγιση για την μείωση των συμπτωμάτων της σαρκοπενίας και για την βελτίωση παραμέτρων ποιότητας ζωής. Τέλος όπως αποδεικνύεται μέσα από τα αποτελέσματα της παρούσας διατριβής η αποτελεσματικότερη προσέγγιση είναι αυτή της θεραπευτικής άσκησης σε ομάδες με επίβλεψη από τον φυσικοθεραπευτή