ICF-VR: uno strumento di valutazione e progettazione educativa per persone anziane o con disabilità accolte in residenze socio-sanitarie e socioassistenziali

L’articolo illustra il percorso di ricerca che ha portato allo sviluppo degli strumenti di valutazione denominati ICF-VR (Vita Residenziale), rivolti a persone anziane o con gravi disabilità, accolte in strutture sanitarie e socio-sanitarie. Gli strumenti consentono di elaborare la progettazione educativa e assistenziale a partire da un profilo biopsicosociale di funzionamento e di valutarne gli outcome. A guida della progettazione è stato definito un modello di qualità di vita nelle strutture residenziali composto da cinque dimensioni, che vengono monitorate attraverso gli strumenti ICF-VR

Modulation of the Muscle Activity During Sleep in Cervical Dystonia

Introduction: Impaired sleep has been reported as an important nonmotor feature in dystonia, but so far, self-reported complaints have never been compared with nocturnal video-polysomnographic (PSG) recording, which is the gold standard to assess sleep-related disorders. Methods: Twenty patients with idiopathic isolated cervical dystonia and 22 healthy controls (HC) underwent extensive clinical investigations, neurological examination, and questionnaire screening for excessive daytime sleepiness and sleep-related disorders. A full-night video PSG was performed in both patients and HC. An ad hoc montage, adding electromyographic leads over the muscle affected with dystonia, was used. Results: When compared to controls, patients showed significantly increased pathological values on the scale assessing self-reported complaints of impaired nocturnal sleep. Higher scores of impaired nocturnal sleep did not correlate with any clinical descriptors but for a weak correlation with higher scores on the scale for depression. On video-PSG, patients had significantly affected sleep architecture (with decreased sleep efficiency and increased sleep latency). Activity over cervical muscles disappears during all the sleep stages, reaching significantly decreased values when compared to controls both in nonrapid eye movements and rapid eye movements sleep. Conclusions: Patients with cervical dystonia reported poor sleep quality and showed impaired sleep architecture. These features however cannot be related to the persistence of muscle activity over the cervical muscles, which disappears in all the sleep stages, reaching significantly decreased values when compared to HC

Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ

Abstract Background Allelic heterogeneity is an important feature of the GLA gene for which almost 900 known genetic variants have been discovered so far. Pathogenetic GLA variants cause alpha-galactosidase A (α-Gal A) enzyme deficiency leading to the X-linked lysosomal storage disorder Fabry disease (FD). Benign GLA intronic and exonic variants ( e.g. pseudodeficient p.Asp313Tyr) have also been described. Some GLA missense variants, previously deemed to be pathogenetic ( e.g. p.Glu66Gln and p.Arg118Cys), they have been reclassified as benign after re-evaluation by functional and population studies. Hence, the functional role of novel GLA variants should be investigated to assess their clinical relevance. Results We identified six GLA variants in 4 males and 2 females who exhibited symptoms of FD: c.159C>G p.(Asn53Lys), c.400T>C p.(Tyr134His), c.680G>C (p.Arg227Pro), c.815A>T p.(Asn272Ile), c.907A>T p.(Ile303Phe) and c.1163_1165delTCC (p.Leu388del). We evaluated their impact on the α-Gal A protein by bioinformatic analysis and homology modelling, by analysis of the GLA mRNA, and by site-directed mutagenesis and in vitro expression studies. We also measured their responsiveness to the pharmacological chaperone DGJ. Conclusions The six detected GLA variants cause deficient α-Gal A activity and impairment or loss of the protein wild-type structure. We found p.Asn53Lys and p.Ile303Phe variants to be susceptible to DGJ

All-sky Medium Energy Gamma-ray Observatory: Exploring the Extreme Multimessenger Universe

The All-sky Medium Energy Gamma-ray Observatory (AMEGO) is a probe class mission concept that will provide essential contributions to multimessenger astrophysics in the late 2020s and beyond. AMEGO combines high sensitivity in the 200 keV to 10 GeV energy range with a wide field of view, good spectral resolution, and polarization sensitivity. Therefore, AMEGO is key in the study of multimessenger astrophysical objects that have unique signatures in the gamma-ray regime, such as neutron star mergers, supernovae, and flaring active galactic nuclei. The order-of-magnitude improvement compared to previous MeV missions also enables discoveries of a wide range of phenomena whose energy output peaks in the relatively unexplored medium-energy gamma-ray band

XIPE: the x-ray imaging polarimetry explorer

XIPE, the X-ray Imaging Polarimetry Explorer, is a mission dedicated to X-ray Astronomy. At the time of writing XIPE is in a competitive phase A as fourth medium size mission of ESA (M4). It promises to reopen the polarimetry window in high energy Astrophysics after more than 4 decades thanks to a detector that efficiently exploits the photoelectric effect and to X-ray optics with large effective area. XIPE uniqueness is time-spectrally-spatially- resolved X-ray polarimetry as a breakthrough in high energy astrophysics and fundamental physics. Indeed the payload consists of three Gas Pixel Detectors at the focus of three X-ray optics with a total effective area larger than one XMM mirror but with a low weight. The payload is compatible with the fairing of the Vega launcher. XIPE is designed as an observatory for X-ray astronomers with 75 % of the time dedicated to a Guest Observer competitive program and it is organized as a consortium across Europe with main contributions from Italy, Germany, Spain, United Kingdom, Poland, Sweden

Perspectives of older people living in long-term care facilities and of their family members toward advance care planning discussions: A systematic review and thematic synthesis

Objective: We aimed to search and synthesize qualitative studies exploring the perspectives of older people living in long-term care facilities and of their family members about advance care planning (ACP) discussions. Methods: The enhancing transparency in reporting the synthesis of qualitative research (ENTREQ) framework was used to guide the review and report its results. PubMed, CINAHL, and PsycINFO were searched for studies published between January 2000 and November 2015. All included studies were assessed for comprehensiveness of reporting, and a thematic synthesis of their results was performed. Results: The nine included studies differed in terms of qualitative method used, comprehensiveness of reporting, and geographical origin. The thematic synthesis led to the identification of four main themes: 1) plans already made; 2) end-of-life care and decision-making; 3) opinions and attitudes toward ACP; and 4) how, when, about what, and with whom to do ACP. Conclusion: Despite their willingness to be involved in a shared decision-making process, older residents and their families still have little experience with ACP. Practical implications: In view of implementing ACP for elders living in long-term care facilities, it would be important to rethink ACP and also to incorporate their nonmedical preferences, according to their own priorities

Discussing advance care planning: insights from older people living in nursing homes and from family members

Background:: Evidence concerning when and in which manner older people living in nursing homes (NHs) would prefer to discuss advance care planning (ACP) is still scarce. This study explored the attitudes of NH residents and family members toward ACP and their opinions as to the right time to broach the subject, the manner in which it should be approached, and the content of ACP. Methods:: This was a qualitative study using face-to-face interviews with 30 residents (age range 66\ue2\u80\u9394), and 10 family members from 4 Italian NHs. The interviews were analyzed using content analysis. Results:: Three main themes were identified: (1) life in the NH, including thoughts about life in a nursing home, residents\ue2\u80\u99 concerns, wishes and fears, and communication barriers; (2) future plans and attitudes toward ACP, including attitudes toward planning for the future and plans already made, and attitudes toward and barriers against ACP; (3) contents and manner of ACP, including contents of ACP discussions, the right moment to introduce ACP, with whom it is better to discuss ACP, and attitudes toward advance directives. Conclusions:: ACP was a welcome intervention for the majority of participants, but an individualized assessment of the person's readiness to be involved in ACP is needed. For people with dementia, it is essential to identify the right time to introduce ACP before NH admission. Participants in our study suggested that ACP should include palliative care and practical issues, and that in the NH setting all staff and family members may have a valuable role in ACP

Sorveglianza sanitaria di personale operante in ambito ospedaliero: individuazione e gestione dei lavoratori sensibilizzati al latice

La pubblicazione riporta i dati di un'indagine condotto su lavoratori sanitari esposti e sensibilizzati al lattic

Sleep-Related Rhythmic Movements and Sleep Terrors: A Possible Common Neurophysiological Background in a Preschool Boy.

We report the case of a 3-year-old boy with a history of frequent and injurious sleep-related rhythmic movements and sleep terrors. We documented six episodes of body rocking and head banging via video polysomnography. No epileptic seizures were observed. In addition to the association between a sleep movement disorder and a disorder of arousal, our case shows that sleep-related rhythmic movements can arise not only during relaxed wakefulness or during a stable sleep stage, but also during a less clearly defined sleep stage during which it is difficult to further subtype non-rapid eye movement sleep. On the contrary, the portion of sleep without rhythmic movement episodes were clearly depicted with their physiological features. These findings might be of relevance for understanding the pathophysiology of both sleep-related rhythmic movements and sleep terrors and emphasize the importance to assess sleep using polysomnography, especially when episodes are frequent and injurious. The neurophysiological information obtained from this assessment might be helpful and guide an eventual treatment option