Results 71 to 80 of about 71,159 (294)

A Fast Path from Innovation to Safe and Effective Medicines

Clinical Pharmacology &Therapeutics, EarlyView.
Consistent progress in medicines development has allowed both for de novo treatment options and for the refinement of existing products that improve effectiveness or reduce harm. Nonetheless, unmet medical needs persist, particularly in rare diseases, pediatrics and underserved populations.
Peter Arlett, Falk Ehmann, Ralf Herold, Evdokia Korakianiti, Pierpaolo Moscariello, Liese Barbier, Iordanis Gravanis, Frank Pétavy, Emmanuel Cormier, Andrew Thomson, Spiros Vamvakas, Steffen Thirstrup   +11 more
wiley   +1 more source

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  

Functional characterization of orbicularis oculi and extraocular muscles [PDF]

, 2016
The orbicularis oculi are the sphincter muscles of the eyelids and are involved in modulating facial expression. They differ from both limb and extraocular muscles (EOMs) in their histology and biochemistry. Weakness of the orbicularis oculi muscles is a
Goldblum, David, Palmowski-Wolfe, Anja, Sekulic-Jablanovic, Marijana, Treves, Susan, Ullrich, Nina D., Zorzato, Francesco   +5 more
core   +2 more sources

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Identification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report

Journal of Medical Case Reports
Introduction Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders affecting muscle function, which are caused by mutations in the dystrophin gene (also known as the Duchenne muscular dystrophy gene).
Sarah Gerges, Rania Naoufal, Hicham Mansour   +2 more
doaj   +1 more source

Case Report: Home initiation of nocturnal non-invasive ventilation in two adolescents with Duchenne muscular dystrophy and comorbid autism spectrum disorder and ADHD

Frontiers in Pediatrics
This case report describes initiation of Nocturnal Non-Invasive Ventilation in home settings for two adolescents with Duchenne Muscular Dystrophy and different neuropsychiatric and neurocognitive comorbidities: one has Autism Spectrum Disorder, and the ...
Pien M. M. Weerkamp, Mark Voermans, Moniek Finders, Arno Brouwers, Philippe Collin, Philippe Collin, Sylvia Klinkenberg, Sylvia Klinkenberg, Sylvia Klinkenberg, Jos. G. M. Hendriksen, Jos. G. M. Hendriksen, Jos. G. M. Hendriksen   +11 more
doaj   +1 more source

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials. [PDF]

, 2015
With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials.
Main, M, Manzur, AY, Mayhew, A, Mercuri, E, Muntoni, F, on behalf of UK NorthStar Clinical Network, ., Pane, M, Ricotti, V, Ridout, DA   +8 more
core   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Illuminating Satellite Cells: Light Sheet Fluorescence Microscopy for 3D Imaging of Murine Skeletal Muscles Damaged by Ex Vivo Forced Eccentric Contraction

Microscopy Research and Technique, EarlyView.
This study presents the light sheet fluorescence microscopy (LSFM) as a tool for 3D‐imaging of whole skeletal muscle to reveal satellite cells (SCs), the muscle stem cells that activate following damage to repair injured tissue. After tissue clearing and whole‐mount staining process aimed to enable optical access and specific cell labeling (1), murine ...
Rachele Garella, Elisa Imbimbo, Francesco Palmieri, Alessia Tani, Martina Parigi, Flaminia Chellini, Alessandra La Contana, Monica Mattioli Belmonte, Aurora Longhin, Ludovico Silvestri, Chiara Sassoli, Roberta Squecco   +11 more
wiley   +1 more source

Fat embolism syndrome in a child with muscular dystrophy of Duchenne type bilateral femur fracture. A rare association.

Revista de la Facultad de Medicina, 2007
It is high the frequency of femur fracture in children with Duchenne Muscular Dystrophy (DMD), with an incidence between 15 and 44%. The fatty embolism is presented in fractures of long bones generally associated to trauma of high energy or to extensive ...
Enrique Vergara Amador, Fernando Galván Villamarín, Marcela Piña Quintero   +2 more
doaj