Results 11 to 20 of about 73,071 (237)

The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies [PDF]

Vojnosanitetski Pregled, 2023
Background/Aim. Duchenne muscular dystrophy (MD) and Becker MD are caused by mutations in the gene for dystrophin (DMD). They are X chromosome-linked recessive diseases where males are affected, and females are healthy carriers of the mutation in most ...
Maksić Jasmina, Maksimović Nela, Rasulić Lukas, Milankov Olgica, Marjanović Ana, Cvetković Dragana, Rakočević-Stojanović Vidosava, Novaković Ivana   +7 more
doaj   +1 more source

Effects of Bisphosphonates on Bone Micro-Architecture of Children With Duchenne Muscular Dystrophy: A Prospective Comparative Study. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Duchenne muscular dystrophy (DMD) is an X‐linked recessive disorder that affects dystrophin production, characterized by progressive neuromuscular dysfunction, often accompanied by osteoporosis. We prospectively evaluate the effects of bisphosphonates on bone micro‐architecture reflected by trabecular bone score (TBS) of patients ...
Wang S, Dai Y, Meng L, Zhang Y, Sun L, Wang Y, Wang O, Jiang Y, Xia W, Xing X, Yu W, Li M.   +11 more
europepmc   +2 more sources

Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin

Scientific Reports, 2021
Emerging and promising therapeutic interventions for Duchenne muscular dystrophy (DMD) are confounded by the challenges of quantifying dystrophin. Current approaches have poor precision, require large amounts of tissue, and are difficult to standardize ...
David P. Bishop, Mika T. Westerhausen, Florian Barthelemy, Thomas Lockwood, Nerida Cole, Elizabeth M. Gibbs, Rachelle H. Crosbie, Stanley F. Nelson, M. Carrie Miceli, Philip A. Doble, Jonathan Wanagat   +10 more
doaj   +1 more source

Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD

Frontiers in Genetics, 2023
Muscle damage and fibro-fatty replacement of skeletal muscles is a main pathologic feature of Duchenne muscular dystrophy (DMD) with more proximal muscles affected earlier and more distal affected later in the disease course, suggesting that different ...
Shirley Nieves-Rodriguez, Shirley Nieves-Rodriguez, Florian Barthélémy, Florian Barthélémy, Jeremy D. Woods, Emilie D. Douine, Emilie D. Douine, Richard T. Wang, Richard T. Wang, Deirdre D. Scripture-Adams, Deirdre D. Scripture-Adams, Kevin N. Chesmore, Kevin N. Chesmore, Francesca Galasso, M. Carrie Miceli, M. Carrie Miceli, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson   +19 more
doaj   +1 more source

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

Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy [PDF]

, 2013
Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease ...
De Bleecker, Jan, De Paepe, Boel
core   +3 more sources

Myofibre Density Reveals a Critical Threshold Around Age 6 in Steroid-Naïve Duchenne Muscular Dystrophy: A Retrospective Observational Study. [PDF]

Neuropathol Appl Neurobiol
We analysed archival muscle biopsies of steroid‐naïve patients with Duchenne muscular dystrophy (DMD), proposing a novel, simple metric: myofibre density (MFD). MFD sharply declines until age 6, identifying a critical threshold around this age. MFD provides a sensitive, reproducible biomarker for early disease progression, highlighting a potential ...
Yamakado T, Ishikawa Y, Ise K, Wang L, Oda Y, Tsuda M, Kimura T, Nagao M, Ito M, Tanaka S, Tanei ZI.   +10 more
europepmc   +2 more sources

Septic shock secondary to an acute necrotizing community-acquired pneumonia with bacteremia due to Pseudomonas aeruginosa

IDCases, 2019
Pseudomonas aeruginosa is an uncommon cause of necrotizing acute community-acquired pneumonia (CAP). Only thirteen cases have been previously reported in the literature.
P. Riviere, D. Patin, E. Delaporte, H. Mahfoudi, S. Lecailtel, F. Poher, P. Villette, J. Duclaux, P. Jouault, G. Brunin   +9 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

Investigating synthetic oligonucleotide targeting of miR31 in Duchenne muscular dystrophy [PDF]

, 2016
Exon-skipping via synthetic antisense oligonucleotides represents one of the most promising potential therapies for Duchenne muscular dystrophy (DMD), yet this approach is highly sequence-specific and thus each oligonucleotide is of benefit to only a ...
Hildyard, J C W, Wells, D J
core   +1 more source