scholarly journals Erythrocyte Protoporphyrin Levels in Patients with Friedreich's and other Ataxias

1979 ◽  
Vol 6 (2) ◽  
pp. 227-232 ◽  
Author(s):  
R.O. Morgan ◽  
G. Naglie ◽  
D.F. Horrobin ◽  
A. Barbeau
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Normal Range ◽  
Free Erythrocyte Protoporphyrin ◽  
Erythrocyte Protoporphyrin ◽  
The Individual

SummaryOf 13 patients with Fried-reich's ataxia (Type la) and 17 with type Ila recessive ataxias, all were found to have levels of “free erythrocyte protoporphyrin “ (FEP) above the normal range. The rise in FEP in Friedreich's ataxia correlated well with the age of the individual and thus appears to be related to the course of the disease. Subjects with olivo-ponto-cerebel-lar atrophy, Charlevoix syndrome, Duchenne muscular dystrophy, and Parkinson's disease were also found to have significantly elevated FEP, although the distribution overlapped with the normal range.The finding of elevated FEP may indicate a relative heme deficiency in ataxia due to inhibition offerrochelatase leading to a state of ineffective, persistent erythropoiesis. The possibility of a prosta-glandin abnormality being related to this defect and to the pathogenesis of ataxia is considered.

scholarly journals Wearable robotic exoskeletons: A socio-philosophical perspective on Duchenne muscular dystrophy research

2020 ◽  
Vol 11 (1) ◽  
pp. 404-413
Author(s):  
Alexandra Kapeller ◽  
Michael H. Nagenborg ◽  
Kostas Nizamis
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Disability Studies ◽  
Philosophy Of Technology ◽  
Research Projects ◽  
Philosophical Perspective ◽  
Individual Model ◽  
Engineering Sciences ◽  
The Social ◽  
The Individual

AbstractRecently, several research projects in the Netherlands have focused on the development of wearable robotic exoskeletons (WREs) for individuals with Duchenne muscular dystrophy (DMD). Such research on WREs is often treated solely within the disciplines of biomedical and mechanical engineering, overlooking insights from disability studies and philosophy of technology. We argue that mainly two such insights should receive attention: the problematization of the ableism connected to the individual model of disability and the stigmatization by assistive technology. While disability studies have largely rejected the individual model of disability, the engineering sciences seem to still locate disability in an individual’s body, not questioning their own problematization of disability. Additionally, philosophy of technology has argued that technologies are not neutral instruments but shape users’ actions and perceptions. The design of WREs may convey a message about the understanding of disability, which can be comprehended as a challenge and an opportunity: stigmatization needs to be avoided and positive views on disability can be evoked. This article aims to highlight the benefits of considering these socio-philosophical perspectives by examining the case of WREs for people with DMD and proposing design principles for WREs. These principles may enhance acceptability of WREs, not only by individuals with DMD but also by other users, and help engineers to better place their work in the social context.

scholarly journals Levodopa improves handwriting and instrumental tasks in previously treated patients with Parkinson’s disease

2020 ◽  
Vol 127 (10) ◽  
pp. 1369-1376
Author(s):  
Thomas Müller ◽  
Ali Harati
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Motor Behavior ◽  
Fine Motor ◽  
Motor Symptoms ◽  
Execution Speed ◽  
Previously Treated Patients ◽  
Previously Treated ◽  
And Performance ◽  
The Individual

Abstract Motor symptoms in patients with Parkinson’s disease may be determined with instrumental tests and rating procedures. Their outcomes reflect the functioning and the impairment of the individual patient when patients are tested off and on dopamine substituting drugs. Objectives were to investigate whether the execution speed of a handwriting task, instrumentally assessed fine motor behavior, and rating scores improve after soluble levodopa application. 38 right-handed patients were taken off their regular drug therapy for at least 12 h before scoring, handwriting, and performance of instrumental devices before and 1 h after 100 mg levodopa intake. The outcomes of all performed procedures improved. The easy-to-perform handwriting task and the instrumental tests demand for fast and precise execution of movement sequences with considerable cognitive load in the domains' attention and concentration. These investigations may serve as additional tools for the testing of the dopaminergic response.

scholarly journals Plasma Lipoprotein Lipase and Hepatic Lipase Activities in Friedreich’s Ataxia

1982 ◽  
Vol 9 (2) ◽  
pp. 191-194 ◽  
Author(s):  
D. Blache ◽  
D. Bouthillier ◽  
A. Barbeau ◽  
J. Davignon
Keyword(s):  
Lipoprotein Lipase ◽  
Hepatic Lipase ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Hepatic Triglyceride ◽  
Normal Range ◽  
Triglyceride Lipase ◽  
Plasma Triglycerides ◽  
Control Subjects ◽  
Hepatic Triglyceride Lipase

SUMMARY:Plasma triglycerides although within the normal range have been shown to be higher in Friedreich’s ataxia than in control subjects. To determine whether this difference could be ascribed to a reduced catabolism of triglyceride-rich lipoproteins, the activities of lipoprotein lipase (LPL) and hepatic triglyceride lipase (HL), released into plasma after an heparin injection, were measured in 13 cases of Friedreich’s ataxia and 14 control subjects of comparable signs. LPL was found to be significantly lower in the ataxic patients. Moreover about half of the cases clustered below the normal range for both lipase activities. This subgroup of Friedreich’s patients had significantly higher plasma triglycerides than those with normal lipase activities. Further studies are needed to relate these findings to other characteristics of the disease.

Patient narratives of hope in stem cell technologies: Trust in biomedicine and the body’s natural ability to heal itself

2021 ◽  
pp. 136345932110468
Author(s):  
Lindsay J DePalma ◽  
Lauren D Olsen ◽  
John H Evans
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Stem Cell ◽  
Extant Literature ◽  
Patient Narratives ◽  
Cell Technologies ◽  
Biomedical Technologies ◽  
Complex Building ◽  
The Individual ◽  
Individual Body

The scholarship on patient hope in biomedical technologies describes two narratives of hope: the biomedical and the individual. The biomedical narrative represents patients’ beliefs that the institution of science will eventually produce treatment for their disease, whereas the individual narrative represents patients’ beliefs that they can alter their prognosis through affective and behavioral modifications. The distinct analytical categories of “biomedical” and “individual,” however, fail to account for the fact that patient hope has been found to be much more complex. Building upon extant literature, we contribute to the understanding of the complexity of patient hope in biomedical technologies by examining a case that highlights interdependencies between the biomedical and individual narratives: hope in stem cell technologies (SCTs). We draw upon interviews with patients with Parkinson’s Disease, and find two narratives of hope: a biomedical narrative, as captured above, and an additional hybrid narrative, which we call a nature narrative. The nature narrative reflects patients’ beliefs that scientists will eventually create SCTs that will allow their individual body to naturally heal itself, which combines a biomedical and an individual narrative.

scholarly journals Analysis of Nucleotide Variations in Genes of Iron Management in Patients of Parkinson's Disease and Other Movement Disorders

2011 ◽  
Vol 2011 ◽  
pp. 1-6
Author(s):  
Emanuela Castiglioni ◽  
Dario Finazzi ◽  
Stefano Goldwurm ◽  
Gianni Pezzoli ◽  
Gianluca Forni ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Movement Disorders ◽  
Regulatory Protein ◽  
The Body ◽  
Motor Dysfunction ◽  
Sequence Variations ◽  
Donor And Acceptor ◽  
Electron Donor And Acceptor ◽  
The Individual

The capacity to act as an electron donor and acceptor makes iron an essential cofactor of many vital processes. Its balance in the body has to be tightly regulated since its excess can be harmful by favouring oxidative damage, while its deficiency can impair fundamental activities like erythropoiesis. In the brain, an accumulation of iron or an increase in its availability has been associated with the development and/or progression of different degenerative processes, including Parkinson's disease, while iron paucity seems to be associated with cognitive deficits, motor dysfunction, and restless legs syndrome. In the search of DNA sequence variations affecting the individual predisposition to develop movement disorders, we scanned by DHPLC the exons and intronic boundary regions of ceruloplasmin, iron regulatory protein 2, hemopexin, hepcidin and hemojuvelin genes in cohorts of subjects affected by Parkinson's disease and idiopathic neurodegeneration with brain iron accumulation (NBIA). Both novel and known sequence variations were identified in most of the genes, but none of them seemed to be significantly associated to the movement diseases of interest.

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