Results 11 to 20 of about 51,867 (216)

Fat embolism after fractures in Duchenne muscular dystrophy: an underdiagnosed complication? A systematic review

Therapeutics and Clinical Risk Management, 2017
David Feder,1 Miriam Eva Koch,1 Beniamino Palmieri,2 Fernando Luiz Affonso Fonseca,1 Alzira Alves de Siqueira Carvalho3 1Pharmacology Department, Faculdade de Medicina do ABC, Santo André, São Paulo, Brazil; 2Department of General Surgery ...
Feder D, Koch ME, Palmieri B, Fonseca FLA, Carvalho AAS   +4 more
doaj   +1 more source

Caregivers and multidisciplinary team members’ perspectives on shared decision making in Duchenne muscular dystrophy: A qualitative study

Orphanet Journal of Rare Diseases
Background As new therapies for Duchenne muscular dystrophy (DMD) are entering the market, shared decision making (SDM) will become increasingly important.
Elise Schoefs, Thomas Desmet, Evelyn Lerinckx, Liesbeth De Waele, Sam Geuens, Conny Pelicaen, Luc Meeus, Steven Simoens, Chantal Van Audenhove, Mieke Mommen, Rosanne Janssens, Isabelle Huys   +11 more
doaj   +2 more sources

Respiratory Care Trajectory in Patients With Duchenne Muscular Dystrophy in the Advanced Stage: A Retrospective Single-Center Study. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Data on respiratory status and care in older adults with Duchenne muscular dystrophy (DMD) remain limited. This study aimed to characterize respiratory status, respiratory physiotherapy, and associated clinical features in patients with DMD aged ≥ 30 years.
Yorimoto K, Ariake Y, Miyazaki Y, Takizawa H, Shimizu-Motohashi Y, Komaki H, Takahashi Y, Hara T.   +7 more
europepmc   +2 more sources

Unravelling the relation between altruistic cooperativeness trait, smiles, and cooperation: a mediation analysis

Frontiers in Psychology, 2023
IntroductionHuman cooperativeness is an important personality trait. However, the mechanism through which people cooperate remains unclear. Previous research suggests that one of the proposed functions of smiling is to advertise altruistic dispositions ...
Xiaoqi Deng, Sarinasadat Hosseini, Yoshihiro Miyake, Takayuki Nozawa   +3 more
doaj   +1 more source

Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse

Molecular Therapy: Nucleic Acids, 2018
Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to
Derek W. Wang, Ekaterina I. Mokhonova, Genevieve C. Kendall, Diana Becerra, Yalda B. Naeini, Rita M. Cantor, Melissa J. Spencer, Stanley F. Nelson, M. Carrie Miceli   +8 more
doaj   +1 more source

Measuring carer quality of life in Duchenne muscular dystrophy: a systematic review of the reliability and validity of self-report instruments using COSMIN

Health and Quality of Life Outcomes, 2022
Introduction Duchenne muscular dystrophy is a rare, progressive, life-limiting genetic neuromuscular condition that significantly impacts the quality of life of informal caregivers. Carer quality of life is measured using heterogeneous self-report scales,
Jill Carlton, Philip A. Powell, Project HERCULES Carer Group   +2 more
doaj   +1 more source

Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]

, 2011
Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
core   +1 more source

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment? [PDF]

PLoS ONE, 2018
This study aimed at comparing implicit sequence learning in individuals affected by Duchenne Muscular Dystrophy without intellectual disability and age-matched typically developing children.
Stefano Vicari, Giorgia Piccini, Eugenio Mercuri, Roberta Battini, Daniela Chieffo, Sara Bulgheroni, Chiara Pecini, Simona Lucibello, Sara Lenzi, Federica Moriconi, Marika Pane, Adele D'Amico, Guja Astrea, Giovanni Baranello, Daria Riva, Giovanni Cioni, Paolo Alfieri   +16 more
doaj   +1 more source

PGC-1alpha regulates the neuromuscular junction program and ameliorates Duchenne muscular dystrophy [PDF]

, 2007
The coactivator PGC-1alpha mediates key responses of skeletal muscle to motor nerve activity. We show here that neuregulin-stimulated phosphorylation of PGC-1alpha and GA-binding protein (GABP) allows recruitment of PGC-1alpha to the GABP complex and ...
Handschin, C., Kobayashi, Y M, Chin, S, Kobayashi, Y. M., Seale, P., Seale, P, Spiegelman, B. M., Handschin, C, Campbell, K. P., Campbell, K P, Spiegelman, B M, Chin, S.   +11 more
core   +1 more source

Distrofia muscular de Duchenne [PDF]

, 2023
Duchenne muscular dystrophy is one of the hereditary skeletal muscle myopathies, leading to disability in the first decade of life and then death from respiratory or cardiac failure.
Ferdin, Litabeth, Callender, Efraín, Villalaz, Isabel, Lara, Daniela   +3 more
core   +1 more source