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Distrofia Muscular

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https://www.readbyqxmd.com/read/28954035/preimplantation-genetic-diagnosis-associated-to-duchenne-muscular-dystrophy
#1
Bianca Bianco, Denise Maria Christofolini, Gabriel Seixas Conceição, Caio Parente Barbosa
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G...
September 21, 2017: Einstein
https://www.readbyqxmd.com/read/28117478/mouthpiece-ventilation-in-duchenne-muscular-dystrophy-a-rescue-strategy-for-noncompliant-patients
#2
Giuseppe Fiorentino, Anna Annunziata, Rosa Cauteruccio, Gianfranco Scotto di Frega, Antonio Esquinas
Objective: To evaluate mouthpiece ventilation (MPV) in patients with Duchenne muscular dystrophy (DMD) who are noncompliant with noninvasive ventilation (NIV). Methods: We evaluated four young patients with DMD who had previously refused to undergo NIV. Each patient was reassessed and encouraged to try MPV. Results: The four patients tolerated MPV well and were compliant with NIV at home. MPV proved to be preferable and more comfortable than NIV with any other type of interface...
November 2016: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/26534599/analisis-de-costo-efectividad-del-diagnostico-de-la-distrofia-muscular-de-duchenne-o-becker-en-colombia
#3
S C Atehortua, L H Lugo, M Ceballos, E Orozco, P Castro, J C Arango, H Mateus
No abstract text is available yet for this article.
November 2015: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/25590443/relationship-between-the-climbing-up-and-climbing-down-stairs-domain-scores-on-the-fes-dmd-the-score-on-the-vignos-scale-age-and-timed-performance-of-functional-activities-in-boys-with-duchenne-muscular-dystrophy
#4
Lilian A Y Fernandes, Fátima A Caromano, Silvana M B Assis, Michele E Hukuda, Mariana C Voos, Eduardo V Carvalho
BACKGROUND: Knowing the potential for and limitations of information generated using different evaluation instruments favors the development of more accurate functional diagnoses and therapeutic decision-making. OBJECTIVE: To investigate the relationship between the number of compensatory movements when climbing up and going down stairs, age, functional classification and time taken to perform a tested activity (TA) of going up and down stairs in boys with Duchenne muscular dystrophy (DMD)...
November 2014: Brazilian Journal of Physical Therapy
https://www.readbyqxmd.com/read/24203668/-diagnosis-and-treatment-with-steroids-for-patients-with-duchenne-muscular-dystrophy-experience-and-recommendations-for-mexico-administraci%C3%A3-n-del-patrimonio-de-la-beneficencia-p%C3%A3%C2%BAblica-asociaci%C3%A3-n-de-distrofia-muscular-de-occidente
#5
Norma A Vázquez-Cárdenas, Francisco Ibarra-Hernández, Luz B López-Hernández, Rosa E Escobar-Cedillo, Luis A Ruano-Calderón, Benjamín Gómez-Díaz, Noemí García-Calderón, M Fernanda Carriedo-Dávila, Liliana G Rojas-Hurtado, Emilia Luna-Padrón, Ramón M Coral-Vázquez
Duchenne muscular dystrophy is a severe, debilitating and progressive disease that affects 1 in 3,500 live male births in the world. The diagnosis should be confirmed by genetic testing to identify the mutation in the DMD gene or muscle biopsy and immunostaining to demonstrate the absence of dystrophin. Although up to now continues to be an incurable disease, this does not mean it has no treatment. Treatment should be multidisciplinary, looking for the functionality of the patient and avoiding or correcting complications, mainly cardio-respiratory and skeletal...
November 16, 2013: Revista de Neurologia
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