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Akademický článek

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

Autor: M. A. Rodríguez, Luís M. Del Rio Barquero, Carlos I. Ortez, Cristina Jou, Meritxell Vigo, Julita Medina, Anna Febrer, Marta Ramon-Krauel, Jorge Diaz-Manera, Montse Olive, Laura González-Mera, Andres Nascimento, Cecilia Jimenez-Mallebrera

Publikováno v: Frontiers in Aging Neuroscience, Vol 9 (2017)

Mutations in human collagen VI genes cause a spectrum of musculoskeletal conditions in children and adults collectively termed collagen VI-related myopathies (COL6-RM) characterized by a varying degree of muscle weakness and joint contractures and wh

Externí odkaz: https://doaj.org/article/e64bb9d19154478bad4995644de6f028

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Improved detection and management of advanced HIV disease through a community adult TB‐contact tracing intervention with same‐day provision of the WHO‐recommended package of care including ART initiation in a rural district of Mozambique

Autor: Tom Chiller, Tacilta Nhampossa, Adrià Murias-Closas, Aina Casellas, Gregory S. Greene, Santiago Izco, Alberto L. García-Basteiro, Nteruma Catorze, Helio Chiconela, Emilio Letang, Belén Saavedra, Juan Ignacio García, Alexander Jordan, Alejandro Blanco-Arevalo, Anna Febrer

Publikováno v: Journal of the International AIDS Society
Dipòsit Digital de la UB
Universidad de Barcelona

Introduction AIDS‐mortality remains unacceptably high in sub‐Saharan Africa, largely driven by advanced HIV disease (AHD). We nested a study in an existing tuberculosis (TB) contact‐tracing intervention (Xpatial‐TB). The aim was to assess the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b8ed81b20859e2426b5c8091e253e9f
https://doi.org/10.1002/jia2.25775

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Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy

Autor: Laura Alias, Eduardo F. Tizzano, Anna Febrer, Natalia Rodríguez

Publikováno v: JOURNAL OF REHABILITATION MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Objective: To measure muscle strength in patients with spinal muscular atrophy using a handheld dynamometer as an objective tool to evaluate the progression of disease and the outcome of therapeutic trials. Design: Maximum voluntary isometric contrac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9907a4cc24363afc830ceec53bed9e8f
https://doi.org/10.2340/16501977-0507

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[Functional assessment for people unable to walk due to spinal muscular atrophy and Duchenne muscular dystrophy. Translation and validation of the Egen Klassifikation 2 scale for the Spanish population]

Autor: Joaquín, Fagoaga, Montserrat, Girabent-Farrés, Caritat, Bagur-Calafat, Anna, Febrer, Birgit F, Steffensen

Publikováno v: Revista de neurologia. 60(10)

The Egen Klassifikation 2 Scale (EK2), expansion of the EK scale, assesses the functional capacity of people with spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) that are in wheelchair phase. This version is more specific for SMA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8ea0594d30bf82077e9ab9f8cf759785
https://pubmed.ncbi.nlm.nih.gov/25952598

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[Fractures in spinal muscular atrophy]

Autor: Anna, Febrer, Meritxell, Vigo, Natalia, Rodríguez, Julita, Medina, Jaume, Colomer, Andrés, Nascimento

Publikováno v: Revista de neurologia. 57(5)

To determine the frequency of fractures in patients with spinal muscular atrophy, their mechanism of production, age at appearance and functional repercussions.Sixty-five patients with spinal muscular atrophy were studied. Cases of fractures diagnose

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0f2307a89e0abdac834e7d25df4451c7
https://pubmed.ncbi.nlm.nih.gov/23975526

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[Translation and validation of the Egen Klassifikation scale for the Spanish population: functional assessment for non-ambulatory individuals with Duchenne's muscular dystrophy and spinal muscular atrophy]

Autor: Joaquín, Fagoaga, Montserrat, Girabent-Farrés, Caritat, Bagur-Calafat, Anna, Febrer, Birgit F, Steffensen

Publikováno v: Revista de neurologia. 56(11)

The Egen Klassifikation (EK) scale is a questionnaire that assesses the functional capacity of people with Duchenne muscular dystrophy and spinal muscular atrophy who can't walk and use a wheelchair.To translate and validate the scale for the Spanish

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c8f109ddc265e182ffa622e761fb73cc
https://pubmed.ncbi.nlm.nih.gov/23703057

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Pituitary dysfunction after traumatic brain injury in children: is there a need for ongoing endocrine assessment?

Autor: Julita Medina, Gemma García-Fructuoso, Larisa Suárez, Paula Casano-Sancho, Lourdes Ibáñez, Anna Febrer

Publikováno v: Clinical endocrinology. 79(6)

BACKGROUND Hypopituitarism has been widely described in adults after traumatic brain injury (TBI); however, the available data in paediatric populations are scarce. Here, we report the results of a prospective, long-term study in children, adolescent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ff543ebd310e699f3ac0715cab0ddc7
https://pubmed.ncbi.nlm.nih.gov/23650946

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Evaluación funcional para personas no ambulantes afectas de atrofia muscular espinal y distrofia muscular de Duchenne. Traducción y validación de la escala Egen Klassifikation 2 para la población española

Autor: Fagoaga J, Caritat Bagur-Calafat, Birgit F Steffensen, Montserrat Girabent-Farrés, Anna Febrer

Publikováno v: Revista de Neurología. 60:439

Introduccion. La escala Egen Klassifikation 2 (EK2), ampliacion de la escala EK, evalua la capacidad funcional de personas con atrofia muscular espinal (AME) y distrofia muscular de Duchenne (DMD) que estan en fase de silla de ruedas. Esta version es

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9a2fb8e085f202e1144ed8bc32e5d47c
https://doi.org/10.33588/rn.6010.2015007

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Traducción y validación de la escala Egen Klassifikation para la población española: evaluación funcional para personas no ambulantes afectas de distrofia muscular de Duchenne y atrofia muscular espinal

Autor: Caritat Bagur-Calafat, Fagoaga J, Birgit F Steffensen, Montserrat Girabent-Farrés, Anna Febrer

Publikováno v: Revista de Neurología. 56:555

Introduccion. La escala Egen Klassifikation (EK) es un cuestionario que valora la capacidad funcional de personas con distrofia muscular de Duchenne y atrofia muscular espinal no ambulantes y que estan en silla de ruedas. Objetivo. Traducir y validar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d2da629d3e37121154fce702d9655daf
https://doi.org/10.33588/rn.5611.2013106

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Fracturas en la atrofia muscular espinal

Autor: M. Vigo, Julita Medina, Jaume Colomer, Natalia Rodríguez, Andrés Nascimento, Anna Febrer

Publikováno v: Revista de Neurología. 57:207

Objetivo. Determinar la frecuencia de fracturas en pacientes con atrofia muscular espinal, mecanismo de produccion, edad de aparicion y repercusion funcional. Pacientes y metodos. Se estudian 65 pacientes con atrofia muscular espinal. Se recogen las

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4a5c7240e90134ab6d6c3a02a91d9b51
https://doi.org/10.33588/rn.5705.2013174

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