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198 results on '"Pocovi, M."'

3. The Effects of a History-Based Instructional Material on the Students' Understanding of Field Lines

Author

Pocovi, M. Cecilia

Abstract

Many students in physics courses fail to achieve a desired conceptual change because they assign an incorrect ontology to the to-be-learned concept. This situation has been detected in previous research for the case of field lines: many college students assign material properties to the lines and describe them, for example, as tubes that contain or transport charges. The historical evolution of this concept shows that early scientists like Faraday assigned material properties to these lines in some occasions. In the present work a history-based instructional material was designed to foster the analysis of the ontology of field lines to help students at an Argentinean university achieve conceptual change. The predicates used by the students to describe physical situations were used as evidence of the assigned ontological status. Conceptual change was measured by the change in the proportion of geometrical predicates that students used when referring to the lines in a written questionnaire. This change was significantly higher for the students learning with the history-based material compared to those that learned in the regular class. Some characteristics of the material and geometrical ideas that students hold about the field lines were determined through an oral interview.

Published
2007
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5. Historical Evolution of the Field View and Textbook Accounts.

Author

Pocovi, M. Cecilia and Finley, Fred N.

Abstract

Analyzes how two electromagnetism textbooks approach the concept of electric field. Uses historical evolution of the field representation. Indicates that one textbook mixes up the historical and pedagogical reasons for the introduction of the concept of field while the other one presents a sketch that might lead students to understand the field and the action-at-a-distance views as supplementing each other. (KHR)

Published
2003

6. Lines of Force: Faraday's and Students' Views.

Author

Pocovi, M. Cecilia and Finley, Fr

Abstract

Analyzes how electric and magnetic lines of force were conceived by Faraday and how they are understood by a group of Argentine university students after receiving instruction. Results show that many students possess ideas similar to those of Faraday in that lines of force are conceived as real physical entities responsible for the transmission of the electric action. (Author/MM)

Published
2002

13. Neurological evaluation of patients with Gaucher disease diagnosed as type 1

Author

Capablo, J.L., de Cabezon, A. Saenz, Fraile, J., Alfonso, P., Pocovi, M., and Giraldo, P.

Subjects
Gaucher's disease -- Diagnosis, Gaucher's disease -- Care and treatment, Gaucher's disease -- Prevention, Diagnosis -- Methods, Diagnosis -- Research, Neurology -- Methods, Neurology -- Research, Enzymes -- Health aspects, Enzymes -- Research, Health, Psychology and mental health
Published
2008

18. Extended interval between enzyme therapy infusions for adult patients with Gaucher's disease type 1

Author

Perez-Calvo, J., Giraldo, P., Pastores, G.M., Fernandez-Galan, M., Martin-Nunez, G., and Pocovi, M.

Subjects
Enzymes -- Health aspects, Enzymes -- Research, Gaucher's disease -- Care and treatment, Gaucher's disease -- Research
Abstract

Abstract: BACKGROUND: Enzyme replacement therapy (ERT) for Gaucher's disease with alglucerase or imiglucerase is efficacious, well-tolerated and safe. However, cost considerations, visits to medical facilities, potentially duration of theray for [...]

Published
2003

19. A common variant in the ABCA 1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia. (Original Article)

Author

Cenarro, A., Artieda, M., Castillo, S., Mozas, P., Reyes, G., Tejedor, D., Alonso, R., Mata, P., Pocovi, M., and Civeira, F.

Subjects
Coronary heart disease -- Risk factors -- Genetic aspects -- Case studies, Hypercholesterolemia -- Genetic aspects -- Case studies -- Risk factors, Health, Case studies, Genetic aspects, Risk factors
Abstract

Familial hypercholesteroloemia (FH) is a common autosomal codominant hereditary disease caused by defects in the LDL receptor (LDLR) gene, and one of the most common characteristics of affected subjects is [...]

Published
2003

23. Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B

Author

Villalon, L., Irun, P., Mallen, M., Dominguez, C., Rodriguez-Sureda, V., Alvarez-Sala, L. A., Arslan, N., Bermejo, N., Giraldo, P., Perez de Soto, I., Guerrero, C., and Pocovi, M.

Abstract

Niemann-Pick disease (NPD) types A and B are autosomal, recessively inherited, lysosomal storage disorders caused by deficient activity of acid sphingomyelinase (E.C. 3.1.4.12) because of mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene. Here, we present the molecular analysis and clinical characteristics of 15 NPD type A and B patients. Sequencing the SMDP1 gene revealed eight previously described mutations and seven novel mutations including four missense [c.682T>C (p.Cys228Arg), c.1159T>C (p.Cys387Arg), c.1474G>A (p.Gly492Ser), and c.1795C>T (p.Leu599Phe)], one frameshift [c.169delG (p.Ala57Leufs*20)] and two splicing (c.316+1G>T and c.1341delG). The most frequent mutations were p.Arg610del (21%) and p.Gly247Ser (12%). Two patients homozygous for p.Arg610del and initially classified as phenotype B showed different clinical manifestations. Patients homozygous for p.Leu599Phe had phenotype B, and those homozygous for c.1341delG or c.316+1G>T presented phenotype A. The present results provide new insight into genotype/phenotype correlations in NPD and emphasize the difficulty of classifying patients into types A and B, supporting the idea of a continuum between these two classic phenotypes.

Published
2013

26. LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

Author

Varret, M., Rabes, J.P., Thiart, R., Kotze, M.J., Baron, H., Cenarro, A., Descamps, O., Ebhardt, M., Hondelijn, J.C., Kostner, G.M., Miyake, Y., Pocovi, M., Schmidt, H., Schuster, H., Stuhrmann, M., Yamamura, T., Junien, C., Beroud, C., Boileau, C., and MDC Library

Subjects
610 Medical Sciences, Medicine, Computer Communication Networks, Cardiovascular and Metabolic Diseases, Factual Databases, Hypercholesterolemia, 570 Life Sciences, LDL Receptors
Abstract

Mutations in the LDL receptor gene (LDLR) cause familial hypercholesterolemia (FH), a common autosomal dominant disorder. The LDLR database is a computerized tool that has been developed to provide tools to analyse the numerous mutations that have been identified in the LDLR gene. The second version of the LDLR database contains 140 new entries and the software has been modified to accommodate four new routines. The analysis of the updated data (350 mutations) gives the following informations: (i) 63% of the mutations are missense, and only 20% occur in CpG dinucleotides; (ii) although the mutations are widely distributed throughout the gene, there is an excess of mutations in exons 4 and 9, and a deficit in exons 13 and 15; (iii) the analysis of the distribution of mutations located within the ligand-binding domain shows that 74% of the mutations in this domain affect a conserved amino-acid, and that they are mostly confined in the C-terminal region of the repeats. Conversely, the same analysis in the EGF-like domain shows that 64% of the mutations in this domain affect a non-conserved amino-acid, and, that they are mostly confined in the N-terminal half of the repeats. The database is now accessible on the World Wide Web at http://www.umd.necker.fr

Published
1998

33. Schizophrenic women with the APOE e4 allele have a worse prognosis than those without it.

Author

Martorell, L., Virgos, C., Valero, J., Coll, G., Figuera, L., Joven, J., Pocovi, M., Labad, A., and Vilella, E.

Subjects
GENETICS of schizophrenia, APOLIPOPROTEIN E
Abstract

The ε4 allele of APOE is generally accepted to be a risk factor in Alzheimer's disease and it has been related to other neuropsychiatric disorders, including schizophrenia. The results of several case-control studies have been inconclusive. To shed more light on this issue we carried out an association study that compared the APOE common variant in a group of 365 schizophrenia patients and 584 controls. We found no differences in the genotype distributions and allele frequencies of patients and controls. In the group of patients, we also analysed the possible influence of the ε4 allele in the clinical variables. The most important findings are that the age at onset (AAO) of ε4+ schizophrenic women, those that have one or two ε4 alleles, is 4 years earlier than that of ε4- women and their risk of suffering a negative syndrome subtype is four times greater. This was not found in schizophrenic men. Our results show that the APOE variant is not a risk factor for developing schizophrenia but that it may modulate its phenotypic expression in a sex-dependent manner. [ABSTRACT FROM AUTHOR]

Published
2001
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