Search results for "Paraplegia"
showing 8 items of 48 documents
Contemporary spinal cord protection during thoracic and thoracoabdominal aortic surgery and endovascular aortic repair: a position paper of the vascu…
2015
Ischaemic spinal cord injury (SCI) remains the Achilles heel of open and endovascular descending thoracic and thoracoabdominal repair. Neurological outcomes have improved coincidentially with the introduction of neuroprotective measures. However, SCI (paraplegia and paraparesis) remains the most devastating complication. The aim of this position paper is to provide physicians with broad information regarding spinal cord blood supply, to share strategies for shortening intraprocedural spinal cord ischaemia and to increase spinal cord tolerance to transitory ischaemia through detection of ischaemia and augmentation of spinal cord blood perfusion. This study is meant to support physicians cari…
AP5Z1/SPG4 8 frequency in autosomal recessive and sporadic spastic paraplegia
2014
Hereditary spastic paraplegias (HSP) constitute a rare and highly heterogeneous group of neurodegenerative disorders, defined clinically by progressive lower limb spasticity and pyramidal weakness. Autosomal recessive HSP as well as sporadic cases present a significant diagnostic challenge. Mutations in AP5Z1, a gene playing a role in intracellular membrane trafficking, have been recently reported to be associated with spastic paraplegia type 48 (SPG48). Our objective was to determine the relative frequency and clinical relevance of AP5Z1 mutations in a large cohort of 127 HSP patients. We applied a targeted next-generation sequencing approach to analyze all coding exons of the AP5Z1 gene. …
VALUTAZIONE DELLA DENSITÀ OSSEA DI UN CAMPIONE DI SOGGETTI PARAPLEGICI. RUOLO DEL DOTTORE IN SCIENZE MOTORIE NEL RECUPERO DELL’AUTONOMIA MOTORIA.
2008
Scopo del lavoro è stato quello di valutare in pazienti maschi paraplegici gli adattamenti del tessuto osseo del rachide in toto e dei vari segmenti scheletrici in conseguenza della prolungata immobilità e di proporre dei nuovi protocolli d’attività motoria che possano sia limitare il decadimento progressivo delle strutture osteo-articolari, sia di preparare i pazienti all’ utilizzo di nuove tecnologie che consentano una pur parziale autonomia motoria. Allo studio hanno partecipato volontariamente venticinque soggetti paraplegici di sesso maschile con lesioni complete T3- L3, suddivisi in due gruppi in relazione agli anni di lesione: il primo gruppo è composto da 13 soggetti con lesione mid…
Validation of the use of Actigraph GT3X accelerometers to estimate energy expenditure in full time manual wheelchair users with spinal cord injury.
2013
Study design: Cross-sectional validation study. Objectives: The goals of this study were to validate the use of accelerometers by means of multiple linear models (MLMs) to estimate the O2 consumption (VO2) in paraplegic persons and to determine the best placement for accelerometers on the human body. Setting: Non-hospitalized paraplegics’ community. Methods: Twenty participants (age=40.03 years, weight=75.8 kg and height=1.76 m) completed sedentary, propulsion and housework activities for 10 min each. A portable gas analyzer was used to record VO2. Additionally, four accelerometers (placed on the non-dominant chest, non-dominant waist and both wrists) were used to collect second-by-second a…
Disease severity affects quality of life of hereditary spastic paraplegia patients
2011
Background and purpose: Hereditary spastic paraplegia (HSP) causes progressive gait disturbance because of degeneration of the corticospinal tract. To assess its impact on Health-Related Quality of Life (HRQoL), we analyzed the correlation of HRQoL with disease severity and clinical symptoms in HSP. Methods: HRQoL was assessed by the Short-Form 36 (SF-36) Mental and Physical Component summary scores (MCS and PCS) in 143 German patients with HSP. Disease severity was assessed by the Spastic Paraplegia Rating Scale (SPRS) and landmarks of walking ability. Patients with ! pure" or ! complicated" HSP were compared. Results: Higher SPRS scores indicating higher disease severity correlated signif…
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
2021
Spastic paraplegia type 7 (SPG7) is one of the most common hereditary spastic paraplegias. SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes. We sought to clinically and genetically characterize a Spanish cohort of SPG7 patients. Patients were recruited from our HCA and HSP cohorts. We identified twenty-one patients with biallelic pathogenic SPG7 mutations. Mean age at onset was 37.4 years (SD ± 14.3). The most frequent phenotype was spastic ataxia (57%), followed by pure spastic paraplegia (19%) and complex phenotypes (19%). Isolated patients presented with focal or multifocal dystonia, subclinical myopat…
Identifying physical activity type in manual wheelchair users with spinal cord injury by means of accelerometers
2015
Objectives: The main objective of this study was to develop and test classification algorithms based on machine learning using accelerometers to identify the activity type performed by manual wheelchair users with spinal cord injury (SCI). Setting: The study was conducted in the Physical Therapy department and the Physical Education and Sports department of the University of Valencia. Methods: A total of 20 volunteers were asked to perform 10 physical activities, lying down, body transfers, moving items, mopping, working on a computer, watching TV, arm-ergometer exercises, passive propulsion, slow propulsion and fast propulsion, while fitted with four accelerometers placed on both wrists, c…
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients
2011
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder defined clinically by progressive lower limb spasticity and weakness. HSP is a genetically highly heterogeneous condition with at least 46 gene loci identified so far, involving X-linked, autosomal recessive (AR) and autosomal dominant inheritance. For correct diagnosis, molecular testing is essential because clinical parameters by themselves are not reliable to differentiate HSP forms. The purpose of this study was to establish amplicon-based high-throughput genotyping for AR-HSP. A sample of 187 index cases with apparently sporadic or recessive spastic paraplegia were analyzed by applying an array-based amplification stra…