Results 81 to 90 of about 71,356 (167)

A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy

International Journal of Neonatal Screening, 2017
Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately ...
Samiah A. Al-Zaidy, Michele Lloyd-Puryear, Annie Kennedy, Veronica Lopez, Jerry R. Mendell   +4 more
doaj   +1 more source

Rigidity and flexibility in protein-protein interaction networks: a case study on neuromuscular disorders [PDF]

arXiv, 2014
Mutations in proteins can have deleterious effects on a protein's stability and function, which ultimately causes particular diseases. Genetically inherited muscular dystrophies (MDs) include several genetic diseases, which cause increasing weakness in muscles and disability to perform muscular functions progressively.
arxiv  

Therapeutic strategies to address neuronal nitric oxide synthase deficiency and the loss of nitric oxide bioavailability in Duchenne Muscular Dystrophy

Orphanet Journal of Rare Diseases, 2017
Duchenne Muscular Dystrophy is a rare and fatal neuromuscular disease in which the absence of dystrophin from the muscle membrane induces a secondary loss of neuronal nitric oxide synthase and the muscles capacity for endogenous nitric oxide synthesis ...
Cara A. Timpani, Alan Hayes, Emma Rybalka   +2 more
doaj   +1 more source

A Review of Mathematical Models for Muscular Dystrophy: A Systems Biology Approach [PDF]

arXiv, 2016
Muscular dystrophy (MD) describes generalized progressive muscular weakness due to the wasting of muscle fibers. The progression of the disease is affected by known immunological and mechanical factors, and possibly other unknown mechanisms. These dynamics have begun to be elucidated in the last two decades.
arxiv  

A Convolutional Neural Network for the Automatic Diagnosis of Collagen VI related Muscular Dystrophies [PDF]

arXiv, 2019
The development of machine learning systems for the diagnosis of rare diseases is challenging mainly due the lack of data to study them. Despite this challenge, this paper proposes a system for the Computer Aided Diagnosis (CAD) of low-prevalence, congenital muscular dystrophies from confocal microscopy images.
arxiv  

Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP^® Neonatal Creatine Kinase-MM Kit in a US and Danish Population

International Journal of Neonatal Screening, 2019
Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms the
Anne Timonen, Michele Lloyd-Puryear, David M. Hougaard, Liisa Meriö, Pauliina Mäkinen, Ville Laitala, Tuukka Pölönen, Kristin Skogstrand, Annie Kennedy, Sari Airenne, Hanna Polari, Teemu Korpimäki   +11 more
doaj   +1 more source

Noninvasive ventilatory support to reverse weight loss in Duchenne muscular dystrophy: A case series

Pulmonology, 2019
This case series of five patients with Duchenne muscular dystrophy demonstrates the nutritional advantages of instituting noninvasive intermittent positive pressure ventilatory support via 15 mm angled mouthpieces to relieve tachypnea and provide more ...
P. Deo, J.R. Bach
doaj  

Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene

Molecular Therapy: Nucleic Acids, 2012
Protein-truncating mutations in the dystrophin gene lead to the progressive muscle wasting disorder Duchenne muscular dystrophy, whereas in-frame deletions typically manifest as the milder allelic condition, Becker muscular dystrophy.
Sue Fletcher, Carl F. Adkin, Penny Meloni, Brenda Wong, Francesco Muntoni, Ryszard Kole, Clayton Fragall, Kane Greer, Russell Johnsen, Steve D. Wilton   +9 more
doaj   +1 more source

Harnessing FFT for Rapid Community Travel Distance and Step Estimation in Children with DMD [PDF]

arXiv
Accurate estimation of gait characteristics, including step length, step velocity, and travel distance, is critical for assessing mobility in toddlers, children and teens with Duchenne muscular dystrophy (DMD) and typically developing (TD) peers. This study introduces a novel method leveraging Fast Fourier Transform (FFT)-derived step frequency from a ...
arxiv  

Rule Based Expert System for Diagnosis of Neuromuscular Disorders [PDF]

arXiv, 2012
In this paper, we discuss the implementation of a rule based expert system for diagnosing neuromuscular diseases. The proposed system is implemented as a rule based expert system in JESS for the diagnosis of Cerebral Palsy, Multiple Sclerosis, Muscular Dystrophy and Parkinson's disease. In the system, the user is presented with a list of questionnaires
arxiv