Results 61 to 70 of about 154 (136)

[Starting of a new pediatric palliative care program in a general hospital: characteristics of the population and use of resources]. [PDF]

An Sist Sanit Navar, 2022
García-Trevijano Cabetas L, Del Villar Guerra P, Lozano Rincón L, Cano Garcinuño A.   +3 more
europepmc   +1 more source

[Referral criteria to clinical genetics from primary care: Consensus document]. [PDF]

Aten Primaria, 2022
Ejarque Doménech I, Marín Reina P, García-Miñaur Rica S, Chirivella González I, Martínez Martínez MT, García Rodríguez AM, Álvarez de Andrés S, Tellería Orriols JJ.   +7 more
europepmc   +1 more source

Hoffmann syndrome, manifestation of hypothyroidism: presentation of a case

Archivo Médico de Camagüey, 2019
Background: Hoffmann syndrome is defined as the combination of hypothyroidism with myopathy, rigidity, cramps and muscle hypertrophy. This form of thyroid myopathy is rare and usually accompanies patients with severe and long-evolving hypothyroidism ...
Asmell Ramos-Cabrera, Alexis Culay-Pérez, Yamila Rodríguez-Sánchez, Alexis Gregori-Caballero   +3 more
doaj  

Ultrasonographic assessment of lower limb muscle architecture in children with early-stage Duchenne muscular dystrophy. [PDF]

Arq Neuropsiquiatr, 2022
Bulut N, Karaduman A, Alemdaroğlu-Gürbüz İ, Yilmaz Ö, Topaloğlu H, Özçakar L.   +5 more
europepmc   +1 more source

Muscle Injury: Pathophysiology, Diagnosis, and Treatment. [PDF]

Rev Bras Ortop (Sao Paulo), 2022
SantAnna JPC, Pedrinelli A, Hernandez AJ, Fernandes TL.   +3 more
europepmc   +1 more source

Fisioterapia na Distrofia Muscular de Duchenne

Revista JRG de Estudos Acadêmicos
Introdução: a Distrofia Muscular de Duchenne (DMD) é uma doença genética neuromuscular que afeta principalmente meninos, caracterizando-se pela perda progressiva da força e massa muscular esquelética, cardíaca e lisa. Causada pela mutação no gene DMD, a condição impede a produção da distrofina, uma proteína essencial para a integridade das fibras ...
Gabriela Bueno Caldas, Ronney Jorge de Souza Raimundo   +1 more
openaire   +1 more source

Caracterización de deleciones en el gen responsable de la distrofia muscular de Duchenne: su frecuencia en pacientes cubanos

Revista Cubana de Medicina, 1996
La distrofia muscular de Duchenne es la más común y grave de las distrofias musculares, afecta a 1 de cada 3 500 varones nacidos vivos y provoca la muerte en la segunda o tercera década de vida.
Mayra Rodríguez Hernández, Raúl Ferreira Capote, Luis Alberto Gayol Mecías, Ricardo Santiago Luis González   +3 more
doaj  

Challenges and Applications of Genetic Testing in Dilated Cardiomyopathy: Genotype, Phenotype and Clinical Implications. [PDF]

Arq Bras Cardiol, 2023
Furquim SR, Linnenkamp B, Olivetti NQS, Giugni FR, Lipari LFVP, Andrade FA, Krieger JE.   +6 more
europepmc   +1 more source

Cognitive profile of patients with facioscapulohumeral muscular dystrophy. [PDF]

Dement Neuropsychol, 2021
Dos Santos VB, Saute JAM, Jacinto-Scudeiro LA, Ayres A, Rech RS, de Oliveira AA, Olchik MR.   +6 more
europepmc   +1 more source

Diagnóstico molecular de distrofia muscular de Duchenne/Becker en una familia sin antecedentes patológicos de la enfermedad

Medisur, 2018
Fundamento: Las distrofias musculares de Duchenne y de Becker son enfermedades neuromusculares progresivas, con un patrón de herencia recesivo ligado al cromosoma X y causadas por mutaciones en el gen que codifica para la distrofina.
Ivonne Martín Hernández, Alejandro Ariosa Olea, Mariesky Zayas Guillot, Tatiana Zaldívar Vaillant, Celia Rosa Soto Pérez-Stable   +4 more
doaj