Strategie di Terapia Occupazionale e adattamento ambientale, mediante un approccio client-centered, nelle Miopatie Infiammatorie Idiopatiche: un case report

INTRODUZIONE Le Miopatie Infiammatorie Idiopatiche sono condizioni rare, pertanto non si è a conoscenza di possibili risultati in letteratura scientifica inerenti al trattamento di Terapia Occupazionale in questo specifico campo. Il trattamento oggi si basa sulla terapia farmacologica in combinazione con l'esercizio fisico e la riabilitazione. Lo scopo di questo articolo è presentare un caso clinico di una giovane donna e il relativo intervento di Terapia Occupazionale utile al raggiungimento dell’autonomia e al miglioramento della qualità di vita. PRESENTAZIONE DEL CASO Il caso clinico dello studio riguarda una giovane donna di anni 15 che presenta debolezza agli arti superiori e difficoltà nei movimenti fini distali delle mani tali da inficiare diverse attività di vita quotidiana. L’intervento di Terapia Occupazionale ha previsto una pratica “client-centered”. Gli obiettivi, infatti, sono stati individuati insieme alla paziente, sulla base dei suoi bisogni, dei suoi valori, delle sue preferenze e aspettative. Per la rilevazione degli obiettivi del progetto riabilitativo è stata utilizzata la Misura Canadese della Performance Occupazionale (COPM). Per sostenere maggiormente il punteggio COPM è stata adoperata la scala di valutazione dell’indipendenza (FIM). La giovane poi, mediante scala analogica sulla fatica, ha autovalutato, per ogni attività svolta, il livello di fatica percepita. Dopo individuazione delle maggiori problematiche, sono stati proposti degli ausili, delle strategie utili all’acquisizione di nuove competenze, ma anche strategie adattive e modifiche dell’ambiente fisico e sociale. RISULTATI Dopo l’intervento di Terapia Occupazionale, i punteggi medi della soddisfazione e della performance, rilevati mediante la COPM, hanno evidenziato una variazione positiva rispettivamente del 175% e 144%; il punteggio della FIM è aumentato del 28%; invece, il punteggio medio della fatica percepita ha denotato una riduzione del 43%. La paziente ha così raggiunto un miglioramento nella performance e, dunque, la piena autonomia in diverse attività di vita quotidiana da lei individuate. DISCUSSIONE Questo caso clinico indica che il trattamento di Terapia Occupazionale, centrato sul paziente, basato sull’individuazione delle giuste strategie, degli ausili e delle modifiche e adattamenti ambientali può essere efficace nel miglioramento della qualità di vita della persona con una condizione rara come la miosite. CONCLUSIONI Nonostante i risultati raggiunti è necessario continuare ad approfondire gli studi, divulgare materiale sull’argomento ed esperienze di altri terapisti occupazionali ampliando il panorama scientifico in modo da poter ottenere maggiori strumenti di valutazione e stilare le linee guida ufficiali per il trattamento di terapia occupazionale nella miosite giovanile

Graphene glial-interfaces: challenges and perspectives

Graphene nanosheets are mechanically strong but flexible, electrically conductive and bio-compatible. Thus, due to these unique properties, they are being intensively studied as materials for the next generation of neural interfaces. Most of the literature focused on optimizing the interface between these materials and neurons. However, one of the most common causes of implant failure is the adverse inflammatory reaction of glial cells. These cells are not, as previously considered, just passive and supportive cells, but play a crucial role in the physiology and pathology of the nervous system, and in the interaction with implanted electrodes. Besides providing structural support to neurons, glia are responsible for the modulation of synaptic transmission and control of central and peripheral homeostasis. Accordingly, knowledge on the interaction between glia and biomaterials is essential to develop new implant-based therapies for the treatment of neurological disorders, such as epilepsy, brain tumours, and Alzheimer's and Parkinson's disease. This work provides an overview of the emerging literature on the interaction of graphene-based materials with glial cells, together with a complete description of the different types of glial cells and problems associated with them. We believe that this description will be important for researchers working in materials science and nanotechnology to develop new active materials to interface, measure and stimulate these cells

Maml1 acts cooperatively with Gli proteins to regulate Sonic hedgheog signaling pathway

Sonic hedgehog (Shh) signaling is essential for proliferation of cerebellar granule cell progenitors (GCPs) and its misregulation is linked to various disorders, including cerebellar cancer medulloblastoma. The effects of Shh pathway are mediated by the Gli family of transcription factors, which controls the expression of a number of target genes, including Gli1. Here, we identify Mastermind-like 1 (Maml1) as a novel regulator of the Shh signaling since it interacts with Gli proteins, working as a potent transcriptional coactivator. Notably, Maml1 silencing results in a significant reduction of Gli target genes expression, with a negative impact on cell growth of NIH3T3 and Patched1−/− mouse embryonic fibroblasts (MEFs), bearing a constitutively active Shh signaling. Remarkably, Shh pathway activity results severely compromised both in MEFs and GCPs deriving from Maml1−/− mice with an impairment of GCPs proliferation and cerebellum development. Therefore Maml1−/− phenotype mimics aspects of Shh pathway deficiency, suggesting an intrinsic requirement for Maml1 in cerebellum development. The present study shows a new role for Maml1 as a component of Shh signaling, which plays a crucial role in both development and tumorigenesis

Impact of sleep disorders on behavioral issues in preschoolers with autism spectrum disorder

BackgroundSleep disorders are one of the most common problems in children with Autism Spectrum Disorder (ASD). However, they often tend to be underdiagnosed and incorrectly treated in clinical practice. This study aims to identify sleep disorders in preschool children with ASD and to explore their relationship with the core symptoms of autism, the child's developmental and cognitive level as well as the psychiatric comorbidities. MethodsWe recruited 163 preschool children with a diagnosis of ASD. The Children's Sleep Habits Questionnaire (CSHQ) assessed sleep conditions. Multiple standardized tests were used to evaluate intellectual abilities, the presence of repetitive behaviors (through the Repetitive Behavior Scale-Revised), as well as the emotional-behavioral problems and the psychiatric comorbidities (through the Child Behavior Checklist -CBCL 1(1/2)-5). ResultsThe results showed that poor disorders had consistently higher scores in all areas assessed by the CSHQ and on the CBCL across all domains. The correlational analysis showed that severe sleep disorders were associated with higher scores in internalizing, externalizing, and total problems at the CBCL syndromic scales, and in all DSM-oriented CBCL subscales. Moreover, we found that the association between sleep disorders and restricted and repetitive behaviors (RRBs) is explained by the anxiety-related symptoms. ConclusionBased on these findings, the study recommends that screening for sleep problems followed by early intervention should constitute a routine part of clinical practice for children with ASD

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test

The aim of this study was to establish the possible effect of glucocorticoid treatment on upper limb function in a cohort of 91 non-ambulant DMD boys and adults of age between 11 and 26 years. All 91 were assessed using the Performance of Upper Limb test. Forty-eight were still on glucocorticoid after loss of ambulation, 25 stopped steroids at the time they lost ambulation and 18 were GC naive or had steroids while ambulant for less than a year. At baseline the total scores ranged between 0 and 74 (mean 41.20). The mean total scores were 47.92 in the glucocorticoid group, 36 in those who stopped at loss of ambulation and 30.5 in the naive group (p <0.001). The 12-month changes ranged between -20 and 4 (mean -4.4). The mean changes were -3.79 in the glucocorticoid group, -5.52 in those who stopped at loss of ambulation and -4.44 in the naive group. This was more obvious in the patients between 12 and 18 years and at shoulder and elbow levels. Our findings suggest that continuing glucocorticoids throughout teenage years and adulthood after loss of ambulation appears to have a beneficial effect on upper limb function. (C) 2015 The Authors. Published by Elsevier B.V

Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: An observational study

The role of timed items, and more specifically, of the time to rise from the floor, has been reported as an early prognostic factor for disease progression and loss of ambulation. The aim of our study was to investigate the possible effect of the time to rise from the floor test on the changes observed on the 6MWT over 12 months in a cohort of ambulant Duchenne boys.A total of 487 12-month data points were collected from 215 ambulant Duchenne boys. The age ranged between 5.0 and 20.0 years (mean 8.48 ±2.48 DS).The results of the time to rise from the floor at baseline ranged from 1.2 to 29.4 seconds in the boys who could perform the test. 49 patients were unable to perform the test at baseline and 87 at 12 month The 6MWT values ranged from 82 to 567 meters at baseline. 3 patients lost the ability to perform the 6mwt at 12 months. The correlation between time to rise from the floor and 6MWT at baseline was high (r = 0.6, p<0.01).Both time to rise from the floor and baseline 6MWT were relevant for predicting 6MWT changes in the group above the age of 7 years, with no interaction between the two measures, as the impact of time to rise from the floor on 6MWT change was similar in the patients below and above 350 m. Our results suggest that, time to rise from the floor can be considered an additional important prognostic factor of 12 month changes on the 6MWT and, more generally, of disease progression

Notch3/Jagged1 Circuitry Reinforces Notch Signaling and Sustains T-ALL

AbstractDeregulated Notch signaling has been extensively linked to T-cell acute lymphoblastic leukemia (T-ALL). Here, we show a direct relationship between Notch3 receptor and Jagged1 ligand in human cell lines and in a mouse model of T-ALL. We provide evidence that Notch-specific ligand Jagged1 is a new Notch3 signaling target gene. This essential event justifies an aberrant Notch3/Jagged1 cis-expression inside the same cell. Moreover, we demonstrate in Notch3-IC–overexpressing T lymphoma cells that Jagged1 undergoes a raft-associated constitutive processing. The proteolytic cleavage allows the Jagged1 intracellular domain to empower Notch signaling activity and to increase the transcriptional activation of Jagged1 itself (autocrine effect). On the other hand, the release of the soluble Jagged1 extracellular domain has a positive impact on activating Notch signaling in adjacent cells (paracrine effect), finally giving rise to a Notch3/Jagged1 auto-sustaining loop that supports the survival, proliferation, and invasion of lymphoma cells and contributes to the development and progression of Notch-dependent T-ALL. These observations are also supported by a study conducted on a cohort of patients in which Jagged1 expression is associated to adverse prognosis

Cardiopulmonary and blood gas parameters in sheep under inhalational anesthesia during decubitus alternations

Os rebanhos de ovinos do Centro-Oeste do Brasil, principalmente da raça Santa Inês, aumentaram muito nos últimos anos. Dessa forma, a casuística clínica também cresceu e a realização de cirurgias de grande porte sem dor e com segurança se faz presente, associada ao uso da anestesia geral inalatória. Este trabalho objetivou avaliar os parâmetros cardiopulmonares e hemogasométricos em ovinos sob anestesia inalatória com ventilação controlada, bem como avaliar a influência de alternâncias de decúbito nos mesmos parâmetros. Os animais foram sedados com acepromazina, induzidos com propofol, intubados e colocados sob anestesia inalatória com isoflurano durante manutenção anestésica. As frequências cardíaca e respiratória, pressão arterial e a concentração de gases sanguíneos foram aferidas a cada cinco minutos por um total de 45 minutos, durante os quais os animais foram alternados entre decúbito lateral direito, dorsal e esquerdo. Os parâmetros aferidos não apresentaram diferenças significativas entre os tempos e decúbitos, concluindo-se que a anestesia geral inalatória com isoflurano mostra-se viável e segura na espécie ovina, pois mantém os parâmetros cardiopulmonares e hemogasométricos em níveis seguros.Sheep herds, especially Santa Ines breed, have grown in the Brazilian Midwest in recent years. Therefore, clinical cases have also grown, and along came the need of conducting major surgeries without pain associated with the use of inhalational anesthesia. This study evaluated the cardiopulmonary and blood gas parameters in sheep under inhalational anesthesia with controlled ventilation, and assessed the effect of decubitus alternations on the parameters. The animals were anesthetized with acepromazine and propofol, intubated and placed on inhalational anesthesia with isoflurane. The respiratory rates, blood pressure and blood gas concentrations were measured every for minutes for a total of 45 minutes during which the animals were alternated right, dorsal and left decubitus. The measured parameters showed no significant differences among the times and positions, concluding that inhalational anesthesia with isoflurane is valid and safe for sheep, as it keeps the cardiopulmonary parameters and arterial blood gases at safe levels

PARÂMETROS CARDIOPULMONARES E HEMOGASOMÉTRICOS EM OVINOS SOB ANESTESIA INALATÓRIA DURANTE ALTERNÂNCIAS DE DECÚBITO

Os rebanhos de ovinos do Centro-Oeste do Brasil, principalmente da raça Santa Inês, aumentaram muito nos últimos anos. Dessa forma, a casuística clínica também cresceu e a realização de cirurgias de grande porte sem dor e com segurança se faz presente, associada ao uso da anestesia geral inalatória. Este trabalho objetivou avaliar os parâmetros cardiopulmonares e hemogasométricos em ovinos sob anestesia inalatória com ventilação controlada, bem como avaliar a influência de alternâncias de decúbito nos mesmos parâmetros. Os animais foram sedados com acepromazina, induzidos com propofol, intubados e colocados sob anestesia inalatória com isoflurano durante manutenção anestésica. As frequências cardíaca e respiratória, pressão arterial e a concentração de gases sanguíneos foram aferidas a cada cinco minutos por um total de 45 minutos, durante os quais os animais foram alternados entre decúbito lateral direito, dorsal e esquerdo. Os parâmetros aferidos não apresentaram diferenças significativas entre os tempos e decúbitos, concluindo-se que a anestesia geral inalatória com isoflurano mostra-se viável e segura na espécie ovina, pois mantém os parâmetros cardiopulmonares e hemogasométricos em níveis seguros. Palavras-chave: cirurgia; decúbito; hemogasometria

Surgical preparation of a permanent carotid transposition in sheep

In large animal research, when frequent sampling of arterial blood is needed, the carotid artery transposition is the most used technique. The objective of this paper is to describe a new technique for carotid artery transposition in sheep and evaluate its effectiveness using the echo-Doppler ultrasound. The animals enrolled in this study had their carotid surgically elevated to the subcutaneous level, by suturing underneath muscles sternocephalic and brachiocephalic. None of the animals that underwent the procedure in this study had trans- or postoperative complications. Six months after the suture removal, all animals presented patent carotids by echo-Doppler ultrasound. This is an easy and safe procedure for carrying out experiments that require the collection of arterial blood