Results 11 to 20 of about 36,350 (272)

On the relevance of prognostic information for clinical trials: A theoretical quantification

Biometrical Journal, Volume 65, Issue 1, January 2023., 2023
Abstract The question of how individual patient data from cohort studies or historical clinical trials can be leveraged for designing more powerful, or smaller yet equally powerful, clinical trials becomes increasingly important in the era of digitalization.
Sandra Siegfried, Stephen Senn, Torsten Hothorn   +2 more
wiley   +1 more source

Penalized regression calibration: a method for the prediction of survival outcomes using complex longitudinal and high-dimensional data [PDF]

Statistics in Medicine (2021), 2021
Longitudinal and high-dimensional measurements have become increasingly common in biomedical research. However, methods to predict survival outcomes using covariates that are both longitudinal and high-dimensional are currently missing. In this article, we propose penalized regression calibration (PRC), a method that can be employed to predict survival
arxiv   +1 more source

Improved Muscle Function in Duchenne Muscular Dystrophy through L-Arginine and Metformin: An Investigator-Initiated, Open-Label, Single-Center, Proof-Of-Concept-Study. [PDF]

PLoS ONE, 2016
Altered neuronal nitric oxide synthase function in Duchenne muscular dystrophy leads to impaired mitochondrial function which is thought to be one cause of muscle damage in this disease.
Patricia Hafner, Ulrike Bonati, Beat Erne, Maurice Schmid, Daniela Rubino, Urs Pohlman, Thomas Peters, Erich Rutz, Stephan Frank, Cornelia Neuhaus, Stefanie Deuster, Monika Gloor, Oliver Bieri, Arne Fischmann, Michael Sinnreich, Nuri Gueven, Dirk Fischer   +16 more
doaj   +1 more source

Gait Event Detection and Travel Distance Using Waist-Worn Accelerometers across a Range of Speeds: Automated Approach [PDF]

Sensors. 2024; 24(4):1155, 2023
Estimation of temporospatial clinical features of gait (CFs), such as step count and length, step duration, step frequency, gait speed, and distance traveled, is an important component of community-based mobility evaluation using wearable accelerometers.
arxiv   +1 more source

Nucleic acid nanostructure for delivery of CRISPR/Cas9‐based gene editing system

Interdisciplinary Medicine, Volume 1, Issue 1, January 2023., 2023
Multifunctional nucleic acid nanostructures, including RCA‐derived DNA, branched DNA, and hybrid DNA, have been developed for delivery of CRISPR/Cas9‐based gene editing system for gene therapy. Abstract CRISPR/Cas9 (clustered regularly interspaced short palindromic repeats/CRISPR‐associated protein 9)‐based gene editing system has aroused great ...
Wantao Tang, Jianbing Liu, Baoquan Ding
wiley   +1 more source

Slow twitch paraspinal muscle dysregulation in adolescent idiopathic scoliosis exhibiting HIF‐2α misexpression

JOR SPINE, Volume 5, Issue 4, December 2022., 2022
This study indicates an association of abnormal HIF‐2α expression in paraspinal myoblasts and a disproportionate slow twitch muscle fiber content in the convexity of the curvature in a sub‐set of AIS subjects, suggesting HIF‐2α dysregulation as a possible risk factor for AIS. The role of HIF‐2α in paraspinal muscle function during spinal growth and its
Wai Kit Tam, Jason P. Y. Cheung, Paul A. Koljonen, Kenny Y. H. Kwan, Kenneth M.C. Cheung, Victor Y. L. Leung   +5 more
wiley   +1 more source

Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
This manuscript summarizes a case of biallelic dystrophin (DMD) variants in a mildly affected female patient and additionally highlights the phenotypic spectrum of one of the patient's two DMD variants, a deletion of exons 49–51. This deletion previously had few reports in the published literature, despite its frequency within our institution's ...
Elizabeth A. Ulm, Chinmayee B. Nagaraj, Cuixia Tian, Teresa A. Smolarek   +3 more
wiley   +1 more source

Safety and immunogenicity of mRNA COVID‐19 vaccine in inpatients with muscular dystrophy

Muscle &Nerve, Volume 67, Issue 2, Page 117-123, February 2023., 2023
Abstract Introduction/Aims Due to muscular weakness and cardiopulmonary dysfunction, patients with muscular dystrophy (MD) have an increased risk of serious complications from coronavirus disease‐2019 (COVID‐19). Although vaccination is recommended, COVID‐19 vaccination safety and immunogenicity in these patients are unknown.
Tomoko Saito, Toshio Saito, Hiroya Hashimoto, Katsuhisa Ogata, Michio Kobayashi, Hiroto Takada, Satoshi Kuru, Takashi Kimura, Akinori Nakamura, Tsuyoshi Matsumura   +9 more
wiley   +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

Proteomic profiling of impaired excitation–contraction coupling and abnormal calcium handling in muscular dystrophy

PROTEOMICS, Volume 22, Issue 23-24, December 2022., 2022
Abstract The X‐linked inherited neuromuscular disorder Duchenne muscular dystrophy is characterised by primary abnormalities in the membrane cytoskeletal component dystrophin. The almost complete absence of the Dp427‐M isoform of dystrophin in skeletal muscles renders contractile fibres more susceptible to progressive degeneration and a leaky ...
Paul Dowling, Stephen Gargan, Dieter Swandulla, Kay Ohlendieck   +3 more
wiley   +1 more source