ABSTRACT Introduction/Aims In dystrophic mice (mdx, a genetic homolog of Duchenne muscular dystrophy: DMD), previous studies showed that mechanical ventilation (MV) induces ventilator‐induced diaphragmatic dysfunction (VIDD). However, susceptibility to mechanical stress caused by asynchrony remains unknown.
Mohamad Yehya +7 more
wiley +1 more source
On RNA-programmable gene modulation as a versatile set of principles targeting muscular dystrophies. [PDF]
Capelletti S +2 more
europepmc +1 more source
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu +4 more
wiley +1 more source
TTN-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant. [PDF]
Õunap K +7 more
europepmc +1 more source
ABSTRACT Introduction/Aims The benefits of initial palliative care (PC) consultation for patients with amyotrophic lateral sclerosis (ALS) have been previously described. The aim of this study was to explore the evolution of PC needs of patients with ALS over time through analysis of PC follow‐up visits. Methods Patients followed at a multidisciplinary
Jocelyn Zwicker +9 more
wiley +1 more source
In Vivo-Like Scaffold-Free 3D In Vitro Models of Muscular Dystrophies: The Case for Anchored Cell Sheet Engineering in Personalized Medicine. [PDF]
Shahin-Shamsabadi A, Cappuccitti J.
europepmc +1 more source
Malignant Hyperthermia in Sweden: Clinical Presentations and Genetic Findings
ABSTRACT Introduction Malignant hyperthermia (MH) is a pharmacogenetic, hypermetabolic and potentially lethal reaction to potent volatile anaesthetics and the muscle relaxant succinylcholine. To improve the understanding of MH, the aim of this retrospective study was to describe the Swedish cohort with respect to clinical manifestations, demographics ...
Anna Hellblom +2 more
wiley +1 more source
Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing. [PDF]
Mathur P +5 more
europepmc +1 more source
Interpretation of elevated baseline concentrations and serial changes of high-sensitivity cardiac troponin T in confirmed muscular dystrophies. [PDF]
Yildirim M +10 more
europepmc +1 more source
Ambient floor vibration sensing advances the accessibility of functional gait assessments for children with muscular dystrophies. [PDF]
Dong Y +8 more
europepmc +1 more source

