Search results for "PARAPLEGIA"
showing 10 items of 48 documents
Risk factors in iatrogenic spinal cord injury
2017
Study design: In the last years, there has been a change in the aetiology of spinal cord injury. There has been an increase in the number of elderly patients with spinal cord injuries caused by diseases or medical procedures. Objective: The aim of this study is to investigate the frequency of the occurrence of iatrogenic spinal cord injury in our unit. The secondary aim is to study what variables can be associated with a higher risk of iatrogenesis. Methods: A retrospective, descriptive, observational study of patients with acute spinal cord injury admitted from June 2009 to May 2014 was conducted. The information collected included the patient age, aetiology, neurological level and grade o…
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia
2010
Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) accounting for up to 40% of autosomal dominant (AD) forms and 12-18% of sporadic cases. The phenotype associated with HSP due to mutations in the SPG4 gene tends to be pure. There is increasing evidence, however, of patients with complicated forms of spastic paraplegia in which SPG4 mutations were identified. A cohort of 38 unrelated Italian patients with spastic paraplegia, of which 24 had a clear dominant inheritance and 14 were apparently sporadic, were screened for mutations in the SPG4 gene.We identified 11 different mutations, six of which were novel (p.Glu143GlyfsX8, p.Tyr415X, p.Asp548Asn, c…
Waking and dreaming: Related but structurally independent. Dream reports of congenitally paraplegic and deaf-mute persons
2011
Models of dream analysis either assume a continuum of waking and dreaming or the existence of two dissociated realities. Both approaches rely on different methodology. Whereas continuity models are based on content analysis, discontinuity models use a structural approach. In our study, we applied both methods to test specific hypotheses about continuity or discontinuity. We contrasted dream reports of congenitally deaf-mute and congenitally paraplegic individuals with those of non-handicapped controls. Continuity theory would predict that either the deficit itself or compensatory experiences would surface in the dream narrative. We found that dream form and content of sensorially limited pe…
Acute painful paraplegia in a 49-year-old man with allergic asthma.
2014
We present a case of a 49-year-old man, with a 10-year history of bronchial asthma and nasal polyposis, who developed acutely painful paraplegia and paresthesias. Laboratory data showed elevated blood creatine kinase levels and myoglobinuria, which were diagnostic for rhabdomyolysis but only partially explained the neurological deficit. Electrophysiological studies revealed a sensorimotor neuropathy of multiple mononeuritis type. The patient also had leucocytosis with marked eosinophilia and antineutrophil cytoplasmic autoantibodies. Bronchial biopsies showed inflammatory infiltrates with a prevalence of eosinophils. All these findings led us to diagnose eosinophilic granulomatosis with pol…
Early outcomes with a single-sided access endovascular stent
2018
Abstract Objective The objective of this study was to report the 1-year follow-up study results of the new Horizon stent graft (Endospan, Herzliya, Israel) from two different prospective consecutive trials. The Horizon abdominal aortic aneurysm stent graft system is a 14F profile system requiring only a single access site. It consists of three modules, introduced separately: base limb (iliac to iliac limb); distal aortic limb; and proximal aortic limb with a bare suprarenal crown and active fixation. Methods Data from the first in man (FIM) clinical study with 10 patients enrolled and the pivotal study with 30 patients were analyzed. Outcomes measured were freedom from major adverse events …
Initial Clinical Experience Using the Low-Profile Altura Endograft System With Double D-Shaped Proximal Stents for Endovascular Aneurysm Repair.
2018
Purpose: To report the initial clinical results of endovascular aneurysm repair (EVAR) using the low-profile (14-F) Altura Endograft System, which features a double “D-shaped” stent design with suprarenal fixation and modular iliac components that are deployed from distal to proximal. Methods: From 2011 to 2015, 90 patients (mean age 72.8±8.3 years; 79 men) with abdominal aortic aneurysm (AAA; mean diameter 53.8±5.7 mm) were treated at 10 clinical sites in 2 prospective, controlled clinical studies using the Altura endograft. Outcomes evaluated included mortality, major adverse events (MAEs: all-cause death, stroke, paraplegia, myocardial infarction, respiratory failure, bowel ischemia, an…
Glial expression of Swiss cheese (SWS), the Drosophila orthologue of neuropathy target esterase (NTE), is required for neuronal ensheathment and func…
2016
ABSTRACT Mutations in Drosophila Swiss cheese (SWS) or its vertebrate orthologue neuropathy target esterase (NTE), respectively, cause progressive neuronal degeneration in Drosophila and mice and a complex syndrome in humans that includes mental retardation, spastic paraplegia and blindness. SWS and NTE are widely expressed in neurons but can also be found in glia; however, their function in glia has, until now, remained unknown. We have used a knockdown approach to specifically address SWS function in glia and to probe for resulting neuronal dysfunctions. This revealed that loss of SWS in pseudocartridge glia causes the formation of multi-layered glial whorls in the lamina cortex, the firs…
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy
2020
Diseases associated with acquired or genetic defects in members of the chaperoning system (CS) are increasingly found and have been collectively termed chaperonopathies. Illustrative instances of genetic chaperonopathies involve the genes for chaperonins of Groups I (e.g., Heat shock protein 60, Hsp60) and II (e.g., Chaperonin Containing T-Complex polypeptide 1, CCT). Examples of the former are hypomyelinating leukodystrophy 4 (HLD4 or MitCHAP60) and hereditary spastic paraplegia (SPG13). A distal sensory mutilating neuropathy has been linked to a mutation [p.(His147Arg)] in subunit 5 of the CCT5 gene. Here, we describe a new possibly pathogenic variant [p.(Leu224Val)] of the same subunit b…
Force normalization in paraplegics.
2012
The principal aim of our study was the determination of the effectiveness of a standardized ratio, allometric scaling model and a gamma function model in normalizing the isometric torque data of spinal cord patients and healthy subjects. For this purpose we studied a sample of 21 healthy males and 23 spinal cord injury males. The experiment consisted of the measurement of the force of the upper limb movement executed by all the subjects. We also determined anthropometric variables with dual-energy x-ray absorptiometry. The experimental data were analyzed with 3 force normalization methods. Our results indicate that the most important confounding variable was the fat free mass of the dominan…
Primary lateral sclerosis and hereditary spastic paraplegia in sporadic patients. An important distinction in descriptive studies.
2016
Abstract Differentiating between primary lateral sclerosis and apparently sporadic hereditary spastic paraplegia patients is an important but difficult issue in transversal studies. Consequently, these patients have been indistinctly classified as primary lateral sclerosis or sporadic HSP in different publications, further contributing to the confusion between both diseases. In our opinion, Schule et al have not reliably excluded PLS in their cohort of simplex HSP, what could affect their reported results. We think that a clearer distinction should be made between both diseases and we propose new definitions and criteria to facilitate this differentiation. This article is protected by copyr…