1,721,330 research outputs found
Clinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation
No full textClinical and biochemical aspects of carnitine deficiency and insufficiency: Transport defects and inborn errors of βoxidation
No full textCarnitine is required for entry of long chain fatty acids into mitochondria where βoxidation occurs. Primary carnitine deficiency, due to a generic defect in cellular carnitine transport, exists in myopathic and systemic forms. Secondary carnitine deficiency may be due to multiplicity of inherited abnormalities, including deficiencies in carnitine palmitoyltransferase acyl-CoA dehydrogenases, electron transfer flavoprotein, and 3-ketoacyl-CoA-thiolase. The clinical features, diagnosis, and treatment of these conditions are described. © 1992 Informa UK Ltd
Ontological modeling of the International Classification of Functioning, Disabilities and Health (ICF): Activities&Participation and Environmental Factors components
Full text linkBackground: The International Classification of Functioning, Disability and Health (ICF) is a classification of health and health-related states developed by the World Health Organization (WHO) to provide a standard and unified language to be used as a reference model for the description of health and health-related states. The concept of functioning on which ICF is based is that of a “dynamic interaction between a person’s health condition, environmental factors and personal factors”. This overall model has been translated into a classification covering all the main components of functioning. However, the practical use of ICF has highlighted some formal problems, mainly concerning conceptual clarity and ontological coherence. Methods: In the present work, we propose an initial ontological formalization of ICF beyond its current status, focusing specifically on the interaction between activities and participation and environmental factors. The formalization has been based on ontology engineering methods to drive goal and scope definition, knowledge acquisition, selection of an upper ontology for mapping, conceptual model definition and evaluation, and finally representation using the Ontology Web Language (OWL). Results: A conceptual model has been defined in a graphical language that included 202 entities, when possible mapped to the SUMO upper ontology. The conceptual model has been validated against 60 case studies from the literature, plus 6 ad-hoc case studies. The model has been then represented using OWL. Conclusions: This formalization might provide the basis for a revision of the ICF classification in line with current efforts made by WHO on the International Classification of Diseases and on the International Classification of Health Interventions
An usual presentation of cytochrome C-oxidase (COX) deficiency shows partial spontaneous reversion.
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Primary obstruction of the fourth ventricle outlets: neuroendoscopic approach and anatomic description
No full textOBJECTIVE: Primary obstruction of the foramina of Magendie and Luschka is an uncommon and still unclear cause of noncommunicating hydrocephalus. The aim of this work is the description, for the first time, of the inner aspect of these velar obstructions of the fourth ventricle outlets and the demonstration of the efficacy of neuroendoscopic treatment. METHODS: Of 240 hydrocephalic patients treated in our institution with endoscopic third ventriculostomy, a subgroup of 10 cases with closure of the fourth ventricular outlets without associated Chiari malformation and syringomyelia was selected. In all of these cases, a transaqueductal endoscopic navigation of the fourth ventricle was performed, and the obstructed outlets were inspected. All of the clinical data and, in particular, the videotape records of endoscopic operations, as well as the cine-magnetic resonance imaging scans, were reviewed to evaluate their patency status. RESULTS: Various degrees of stenosis were found endoscopically: restriction of the Magendie contour with thick and opaque membrane, transparent spider web-like membrane, and dense membrane with fissures acting as valves. Endoscopic third ventriculostomy was effective in almost all patients, although we noticed an unforeseen high incidence of closure of the stoma. The restored normal cerebrospinal fluid flux after ventriculocisternostomy and magendieplasty was demonstrated by comparative Study of cerebrospinal fluid flow measurements by cine-magnetic resonance imaging. CONCLUSION: This report demonstrates the effectiveness of neuroendoscopic third ventriculostomy as well as magendiestomy in cases of tetraventricular hydrocephalus attributable to primary obstruction of the Outlets of the fourth ventricle and, for the first time, presents direct images of various types of outlet obstructive pathology
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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