450 research outputs found
Accompanying symptoms and psychiatric comorbidity in migraine and tension-type headache patients
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
Motor Outcome Measures in Pediatric Patients with Congenital Muscular Dystrophies: A Scoping Review
Congenital muscular dystrophies (CMDs) are a heterogeneous group of genetic neuromuscular disorders. They usually occur at birth or in early childhood, with delayed acquisition of motor milestones, and diffuse muscle weakness. A dystrophic pattern is evident on the muscle biopsy. They are highly variable both in terms of severity and clinical evolution and in terms of pathogenetic biochemical mechanisms. The aim of this review is to collect and summarize the current knowledge of motor function in pediatric patients with congenital muscular dystrophies and the instruments used to assess it. This scoping review was conducted using the methodology of PRISMA (extension for Scoping Reviews, PRISMA-ScR). Two databases were queried from January 2002 to November 2022. Articles were identified based on title and abstract. Full-text papers published in peer-reviewed English-language journals were selected. It emerged that motor functional aspects are still underinvestigated in CMD patients, probably due to the rarity of these conditions and the phenotypic variability. The scales used to assess motor function are heterogeneous, as are the age groups considered. Finally, the predominant type of research design is cross-sectional; few studies analyze the progression of motor function over time. All these factors make it difficult to correlate the results of different publications and stress the need for more accurate and shared protocols for assessing motor function in these patients
Wearable Inertial Devices in Duchenne Muscular Dystrophy: A Scoping Review
In clinical practice and research, innovative digital technologies have been proposed for the characterization of neuromuscular and movement disorders through objective measures. Among these, wearable devices prove to be a suitable solution for tele-monitoring, tele-rehabilitation, and daily activities monitoring. Inertial Measurement Units (IMUs) are low-cost, compact, and easy-to-use wearable devices that evaluate kinematics during different movements. Kinematic variables could support the clinical evaluation of the progression of some neuromuscular diseases and could be used as outcome measures. The current review describes the use of IMUs for the biomechanical assessment of meaningful outcome measures in individuals affected by Duchenne muscular dystrophy (DMD). The PRISMA methodology was used and the search was conducted in different databases (Scopus, Web of Science, PubMed). A total of 23 articles were examined and classified according to year of publication, ambulatory/non-ambulatory subjects, and IMU positioning on human body. The analysis points out the recent regulatory identification of Stride Velocity 95th Centile as a new endpoint in therapeutic DMD trials when measured continuously from a wearable device, while only a few studies proposed the use of IMUs in non-ambulatory patients. Clinical recognition of reliable and accurate outcome measures for the upper body is still a challeng
Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach
Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study
I colombi della cittĂ di Bolzano: interventi di gestione e caratteristiche della popolazione
Il colombo urbano è un’entità prettamente sinantropica che pone continui problemi di convivenza con l’uomo e le sue attività . Il
comune di Bolzano ha, fi n dal 1988, avviato un programma di gestione della popolazione di colombi, coordinato da una commissione
tecnico-scientifi ca composta da esperti e portatori di interesse. Il programma ha previsto una iniziale caratterizzazione morfologica
e comportamentale di questa popolazione, che ha mostrato l’assenza di voli quotidiani di foraggiamento nelle campagne, così che
le risorse trofi che sono reperite totalmente nell’ambito urbano. Per il controllo numerico dei colombi sono state sperimentate sia
metodologie di cattura e soppressione dei soggetti, che di chemiosterilizzazione. Quest’ultima metodologia, o per l’assenza di risul-
tati tangibili o per il gravoso impegno economico, è stata abbandonata dopo l’impiego di prodotti contenenti sia progesterone che
nicarbazina come principio attivo. Il modello di gestione attuale è basato: a) sulla quotidiana distribuzione di granaglie in 10 punti
fi ssi, dove erano state costruite apposite piazzole di alimentazione; b) sul controllo dello stato sanitario dei colombi, accertato su di
un campione percentualmente rappresentativo della popolazione, mediante la cattura di esemplari alle piazzole; c) sul monitoraggio
delle dimensioni della popolazione, valutata sia attraverso i conteggi alle piazzole sia con metodologie di stima tramite distance
sampling; d) sulla emanazione di ordinanze volte a vietare la distribuzione di cibo da parte dei cittadini e promuovere la difesa degli
edifi ci per disincentivare lo stazionamento dei colombi
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