Results 61 to 70 of about 54,841 (223)
The analysis of height, weight, and BMI z‐score trajectories in boys with DMD from the FOR‐DMD study showed that higher baseline height was associated with slower subsequent growth, and older age with greater weight gain after glucocorticoid initiation.
Marianela Schiava +71 more
wiley +1 more source
Serum Transaminase in Duchenne Dystrophy
Researchers at Children’s Hospital Boston, MA, have shown a linear relationship between serum CPK and serum ALT and AST and a logarithmic relationship between serum enzyme levels and age for boys with Duchenne (n=46) or Becker (n=9) muscular dystrophy ...
J Gordon Millichap
doaj +1 more source
Rare DMD Gene Duplication in a Lebanese Child With Duchene Muscular Dystrophy
ABSTRACT A five‐year‐old boy with clinical features of Duchenne muscular dystrophy was found to have a rare de novo DMD exon 2–9 duplication. Reporting such atypical duplications improves genotype–phenotype interpretation and highlights the need for multidisciplinary care, particularly in resource‐limited settings.
Nada Assaf +4 more
wiley +1 more source
Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy
Little is known about the relationship between Becker Muscular Dystrophy (BMD) and mental disorders. This study aimed to clarify whether BMD is a risk factor for psychiatric diseases.
M. Mori-Yoshimura +13 more
semanticscholar +1 more source
Altered Mechanical Properties of Astrocytes Lacking MLC1: Implications for the Leukodystrophy MLC
Mechanical properties of Mlc1‐null astrocytes are altered. Cytoskeleton‐related pathways are dysregulated in Mlc1‐null astrocytes. Mlc1‐null astrocytes show alterations in focal adhesions, which link the cytoskeleton to the extracellular matrix. ABSTRACT Loss of function of the astrocyte protein MLC1 causes Megalencephalic Leukoencephalopathy with ...
Quinty Bisseling +10 more
wiley +1 more source
Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley +1 more source
ABSTRACT Background Duchenne muscular dystrophy (DMD) is a severe, life‐limiting neuromuscular disorder (NMD) characterized by progressive muscle wasting and mitochondrial dysfunction. Although gene therapies offer promise, even those already approved by regulatory agencies, their use remains constrained by mutation specificity, delivery challenges and
Sean Y. Ng +12 more
wiley +1 more source
Five patients from 3 families with Becker muscular dystrophy (BMD) were reported. The main clinical and laboratory findings were in common. Pairs of affected brothers are quite resembled each other. However, there are also some variations among different families.
H D, Fu, X F, Tang, Y P, Guo
openaire +1 more source
OBJECTIVE This systematic review aims to provide an overview of instruments used to assess behavioral and psychosocial functioning of patients with Duchenne and Becker muscular dystrophy, as well as to review the psychometric properties and applicability
D. Hellebrekers +5 more
semanticscholar +1 more source
ABSTRACT Background Iterative decomposition of water and fat with echo asymmetry and least‐squares estimation quantitation (IDEAL‐IQ), a quantitative 6‐point Dixon magnetic resonance imaging (MRI) sequence, has been increasingly used for quantifying muscle fat fraction (FF) in neuromuscular disorders.
Yanyu Lu +14 more
wiley +1 more source

