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19 results on '"C. Paradas"'

1. [Present and future of neurology in Spain].

Author

Illa Sendra I, García De Yébenes Prous J, Ramo Tello C, Polo Esteban JM, Molinuevo Guix JL, Robles Bayón A, Mulas Delgado F, Alvarez Sabín J, Aguilar Barbera M, Berciano Blanco JA JA, Blesa González R, Carnero Pardo C, Castillo Sánchez J, Del Ser Quijano T, Ferrer Abizanda I, García-Albea Ristol E, Gómez Isla T, Graus Ribas F, Jiménez Hernández MD, Liaño Martínez H, Matías Guiu-Guia J, Zarranz Imirizaldu JJ, Paradas López C, Elena Martínez G, Maltas Pérez G, and Ponce Rodríguez MT

Subjects
Humans, Referral and Consultation, Research, Societies, Medical, Spain, Workforce, Nervous System Diseases diagnosis, Nervous System Diseases drug therapy, Nervous System Diseases physiopathology, Nervous System Diseases psychology, Neurology education, Neurology trends
Abstract

This is a document prepared by the Spanish Society of Neurology (SEN), which was given to the President of Spain (Mr. José María Aznar) last September with the main aim of examining the current situation of Neurology in our country. It analyses the present and future of Neurology in clinical assistance, teaching and research. To prepare this document the criteria of patients' associations has been considered, including the Declaration of Madrid which has been subscribed by thirty of these associations. In spite of its relevant development in the previous decades, the current situation of Neurology in Spain is far from the ideal. To reach the recommendable menber of 3 or 4 neurologists per 100,000 inhabitants it is necessary to duplicate the present number of neurologists which has been estimated around 2/100,000; this situation is especially urgent in some Autonomous Communities. The most important problems in neurological assistance are: inadequate follow-up of the chronic outpatients, low numbers of neurological beds and of duties of Neurology, as well as of neurological case of patients with urgent neurological disorders. It is also necessary to increase the number of professors of Neurology to adequately cover pregraduate teaching; again there are important differences in teaching positions among Autonomous Communities. Neurology residence should be prolonged from 4 to 5 years. Finally, it is necessary to support the appearance of superespecialised units and to promote a coordinated research with other close specialities including basic neuroscience.

Published
2001

2. P.86 Spanish Pompe Registry: Update of the 122 patients included

Author

R. Martínez Marín, D. Reyes Leiva, A. Nascimento, N. Muelas, C. Dominguez, C. Paradas, M. Olivé, J. Grau, M. Barba Romero, S. Pascual Pascual, R. Blanco Lago, M. Usón, A. Gutiérrez, J. Barcena Llona, A. Colomé, A. López de Munuain, F. Pla-Junca, S. Segovia Simón, and J. Díaz Manera

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2022

3. P.85 Analysis of Juvenile onset Pompe disease patients included in the Spanish Pompe Registry

Author

R. Martínez Marín, J. Sánchez Caro, D. Reyes Leiva, A. Nascimento, N. Muelas, C. Dominguez, C. Paradas, M. Olivé, S. Pascual Pascual, M. Barba Romero, M. Gomez, M. Usón, R. Blanco, J. Barcena Llona, A. López de Munuain, A. Gutiérrez, A. Colomé, F. Pla-Junca, S. Segovia Simón, and J. Díaz Manera

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2022

5. CLINICAL RESEARCH

Author

M. Schiava, C. Ikenaga, T. Stojkovic, M. Caballero, I. Nishino, C. Paradas, A. Alonso-Jimenez, A. Kostera-Pruszczyk, F. Miralles Morell, J. De Bleecker, C. Domínguez-Gonzalez, G. Papadimas, K. Claeys, P. Laforet, A. Toscano, E. Pál, M. Farrugia, G. Tasca, C. Weihl, and J. Diaz Manera

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2021

6. Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families

Author

Fabiola Mavillard, Aurelio Hernández-Lain, Emilia Servián-Morilla, Joshua S. Clayton, J. Esteban Perez, Leigh B. Waddell, Nigel G. Laing, Sandra T. Cooper, P. Rodrigo, Katrina Reardon, Macarena Cabrera-Serrano, Montse Olivé, Frances J. Evesson, Payam Soltanzadeh, Cristina Domínguez-González, N. Ermolova, A. Arteche‐López, M. Spencer, A. Corbett, Laura Gonzalez-Mera, C. Navas, Gianina Ravenscroft, E. Rivas-Infante, C. Paradas‐Lopez, A. Sanchez, Instituto de Salud Carlos III, European Commission, Generalitat de Catalunya, and National Health and Medical Research Council (Australia)

Subjects
Adult, Male, Histology, Adolescent, Mutation, Missense, Missense variant, Muscle Proteins, Limb girdle, Pathology and Forensic Medicine, Young Adult, CAPN3, Physiology (medical), Genotype, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Muscular dystrophy, Gluteal muscles, LGMDD4, Genetics, biology, Calpain, Skeletal muscle, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Middle Aged, medicine.disease, Calpainopathy, LGMDR1, Pedigree, medicine.anatomical_structure, Neurology, Muscular Dystrophies, Limb-Girdle, biology.protein, Female, Neurology (clinical), Limb-girdle muscular dystrophy
Abstract

[Aims] Recessive variants in CAPN3 gene are the cause of the commonest form of autosomal recessive limb girdle muscle dystrophy. However, two distinct in-frame deletions in CAPN3 (NM_000070.3:c.643_663del21 and c.598_621del15) and more recently, Gly445Arg and Arg572Pro substitutions have been linked to autosomal dominant (AD) forms of calpainopathy. We report 21 affected individuals from seven unrelated families presenting with an autosomal dominant form of muscular dystrophy associated with five different heterozygous missense variants in CAPN., [Methods] We have used massively parallel gene sequencing (MPS) to determine the genetic basis of a dominant form of limb girdle muscular dystrophy in affected individuals from seven unrelated families., [Results] The c.700G> A, [p.(Gly234Arg)], c.1327T> C [p.(Ser443Pro], c.1333G> A [p.(Gly445Arg)], c.1661A> C [p.(Tyr554Ser)] and c.1706T> C [p.(Phe569Ser)] CAPN3 variants were identified. Affected individuals presented in young adulthood with progressive proximal and axial weakness, waddling walking and scapular winging or with isolated hyperCKaemia. Muscle imaging showed fatty replacement of paraspinal muscles, variable degrees of involvement of the gluteal muscles, and the posterior compartment of the thigh and minor changes at the mid-leg level. Muscle biopsies revealed mild myopathic changes. Western blot analysis revealed a clear reduction in calpain 3 in skeletal muscle relative to controls. Protein modelling of these variants on the predicted structure of calpain 3 revealed that all variants are located in proximity to the calmodulin-binding site and are predicted to interfere with proteolytic activation., [Conclusions] We expand the genotypic spectrum of CAPN3-associated muscular dystrophy due to autosomal dominant missense variants., This study was funded in part by Instituto de Salud Carlos III through the project PI14/00738 to M. O. (co-funded by European Regional Development Fund. ERDF, a way to build Europe). We thank CERCA Programme / Generalitat de Catalunya for institutional support NGL (APP1117510) and GR (APP1122952) are supported by the Australian National Health and Medical Research Council (NHMRC). This work is also funded by an NHMRC Project Grant (APP1080587).

Published
2020

7. POMPE DISEASE

Author

D. Reyes-Leiva, A. Nascimento, N. Muelas, C. Domínguez-González, C. Paradas, M. Olivé, J. Grau, M. Barba-Romero, M. Gómez-Caravaca, J. Diaz-Manera, and null S. Spanish Pompe Study Group

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2021

8. LGMD

Author

U. Moore, M. James, S. Spuler, J. Day, K. Jones, D. Bharucha-Goebel, E. Salort-Campana, A. Pestronk, M. Walter, C. Paradas, T. Stojkovic, M. Mori Yoshimura, E. Bravver, E. Pegoraro, J. Mendell, K. Bushby, V. Straub, and A. Mayhew

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2021

9. IMAGING

Author

C. Dominguez-Gonzalez, R. Fernandez-Torron, U. Moore, B. Velez, J. Alonso Perez, L. Gonzalez-Mera, M. Olivé, J. García García, G. Morís, J. León Hernández, N. Muelas, C. de Fuenmayor Fernández de la H, M. Martín, J. Díaz-Manera, and C. Paradas

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2021

10. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Author

M. Garibaldi, F. Fattori, C. Bortolotti, G. Brochier, C. Labasse, M. Verardo, E. Bertini, E. Pennisi, C. Paradas, N. Romero, and G. Antonini

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2018

11. LIMB-GIRDLE MUSCULAR DYSTROPHY I

Author

M. James, A. Mayhew, M. Jacobs, S. Spuler, J. Day, K. Jones, D. Bharucha-Goebel, E. Salort-Campana, A. Pestronk, M. Walter, C. Paradas, T. Stojkovic, M. Mori-Yoshimura, E. Bravver, J. Diaz Manera, E. Pegoraro, J. Mendell, K. Bushby, and V. Straub

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2018

12. Dystroglycanopathy: Description of the first patient cohort in Spain

Author

M. Madruga Garrido, E. Martínez Fernández, B. Muñoz Cabello, C. Paradas López, P. Carbonell Corvillo, E. Rivas Infante, A.D. Adarmes Gómez, E. Servián Morilla, M. Ley Martos, L. Villarreal Pérez, J. Fernández Ramos, C. Márquez Infante, and L. Arrabal Fernández

Subjects
Pediatrics, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Cohort, medicine, Neurology (clinical), business, Genetics (clinical)
Published
2016

13. Diagnostic value of the activity of mitochondrial respiratory chain complex for mitochondrial myopathies

Author

L. Villareal-Perez, J. Rodriguez-Aguilera, P. Carbonell-Corvillo, Celedonio Márquez-Infante, A. Carvajal-Hernandez, I. Rojas-Marcos, A. Cortes-Rodriguez, C. Paradas-Lopez, E. Martinez-Fernandez, E. Rivas-Infante, L. Lebrato-Hernandez, M. Cascajo-Almenara, and M. Martin-Casanueva

Subjects
Mitochondrial respiratory chain, Neurology, Mitochondrial myopathy, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Biology, medicine.disease, Molecular biology, Value (mathematics), Genetics (clinical)
Published
2016

14. A novel MYH7 mutation causing the Laing distal myopathy in Andalucia

Author

M. Cabrera Serrano, A. Miranda-Vizuete, A. Martínez Mir, A. Gil-Gálvez, C. Márquez Infante, Emilia Servián-Morilla, L. Villarreal Pérez, M.I. Chamorro Muñoz, G. García Martín, C. Paradas López, P. Carbonell Corvillo, E. Tristán Clavijo, and E. Rivas Infante

Subjects
Genetics, LAING DISTAL MYOPATHY, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Medicine, MYH7, Neurology (clinical), business, Genetics (clinical)
Published
2016

16. Sporadic late-onset nemaline myopathy in an aged patient

Author

R. Avila Polo, E. Rivas Infante, C. Paradas López, and R. Morgado Linares

Subjects
Pediatrics, medicine.medical_specialty, Nemaline myopathy, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Late onset, Neurology (clinical), medicine.disease, business, Genetics (clinical)
Published
2016

17. [Present and future of neurology in Spain]

Author

I, Illa Sendra, J, García De Yébenes Prous, C, Ramo Tello, J M, Polo Esteban, J L, Molinuevo Guix, A, Robles Bayón, F, Mulas Delgado, J, Alvarez Sabín, M, Aguilar Barbera, J A, Berciano Blanco JA, R, Blesa González, C, Carnero Pardo, J, Castillo Sánchez, T, Del Ser Quijano, I, Ferrer Abizanda, E, García-Albea Ristol, T, Gómez Isla, F, Graus Ribas, M D, Jiménez Hernández, H, Liaño Martínez, J, Matías Guiu-Guia, J J, Zarranz Imirizaldu, C, Paradas López, G, Elena Martínez, G, Maltas Pérez, and M T, Ponce Rodríguez

Subjects
Neurology, Spain, Research, Workforce, Humans, Nervous System Diseases, Referral and Consultation, Societies, Medical
Abstract

This is a document prepared by the Spanish Society of Neurology (SEN), which was given to the President of Spain (Mr. José María Aznar) last September with the main aim of examining the current situation of Neurology in our country. It analyses the present and future of Neurology in clinical assistance, teaching and research. To prepare this document the criteria of patients' associations has been considered, including the Declaration of Madrid which has been subscribed by thirty of these associations. In spite of its relevant development in the previous decades, the current situation of Neurology in Spain is far from the ideal. To reach the recommendable menber of 3 or 4 neurologists per 100,000 inhabitants it is necessary to duplicate the present number of neurologists which has been estimated around 2/100,000; this situation is especially urgent in some Autonomous Communities. The most important problems in neurological assistance are: inadequate follow-up of the chronic outpatients, low numbers of neurological beds and of duties of Neurology, as well as of neurological case of patients with urgent neurological disorders. It is also necessary to increase the number of professors of Neurology to adequately cover pregraduate teaching; again there are important differences in teaching positions among Autonomous Communities. Neurology residence should be prolonged from 4 to 5 years. Finally, it is necessary to support the appearance of superespecialised units and to promote a coordinated research with other close specialities including basic neuroscience.

Published
2001

18. G.P.6.01 Measurements of progression in dysferlin myopathies: A preliminary prospective quantitative study

Author

C. Paradas, C. Serrano-Munuera, J. Llauger, M. Martı´nez-Lage, C. Márquez, P. Gallano, N. De Luna, R. Rojas-Garcı´a, E. Gallardo, and I. Illa

Subjects
Dysferlin, Pathology, medicine.medical_specialty, Neurology, biology, business.industry, Pediatrics, Perinatology and Child Health, biology.protein, Medicine, Neurology (clinical), business, Genetics (clinical)
Published
2009

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