2017
DOI: 10.1097/md.0000000000008415
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Muscle ultrasound

Abstract: Our study aimed to evaluate the utility of muscle ultrasound in newborn screening of infantile-onset Pompe disease (IOPD) and to establish a system of severity grading. We retrospectively selected 35 patients with initial low acid alpha-glucosidase (GAA) activity and collected data including muscle ultrasound features, GAA gene mutation, activity/performance, and pathological and laboratory findings. The echogenicity of 6 muscles (the bilateral vastus intermedius, rectus femoris, and sartorius muscles) was com… Show more

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Cited by 14 publications
(8 citation statements)
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“…We found that some texture feature parameters for rectus femoris muscles and sartorius muscles were significantly different between the IOPD and LOPD groups. This result is consistent with the findings of Hwang et al, who used a muscle ultrasound scoring system based on modified Heckmatt’s qualitative criteria to distinguish IOPD from LOPD, achieving 100.0% sensitivity and 84.0% specificity [ 42 ]. They proposed that the echogenicity of muscle tissues in newborns and infants can increase because newborns and infants have small muscle fibers and a relatively high proportion of endomysial and perimysial connective tissues.…”
Section: Discussionsupporting
confidence: 90%
See 1 more Smart Citation
“…We found that some texture feature parameters for rectus femoris muscles and sartorius muscles were significantly different between the IOPD and LOPD groups. This result is consistent with the findings of Hwang et al, who used a muscle ultrasound scoring system based on modified Heckmatt’s qualitative criteria to distinguish IOPD from LOPD, achieving 100.0% sensitivity and 84.0% specificity [ 42 ]. They proposed that the echogenicity of muscle tissues in newborns and infants can increase because newborns and infants have small muscle fibers and a relatively high proportion of endomysial and perimysial connective tissues.…”
Section: Discussionsupporting
confidence: 90%
“…Therefore, we suggest that disease severity can be estimated using changes in the texture feature parameters of muscles in patients with IOPD. Although a fluorometric GAA activity assay based on dried blood spots is the predominant method for diagnosing Pompe disease, it does not effectively distinguish between IOPD and LOPD or false-positive cases with pseudodeficiency mutation [ 42 , 43 ]. In future research, texture-feature parametric imaging will be a useful method for differentiating IOPD from LOPD and as a correlate of changes in clinical parameters.…”
Section: Discussionmentioning
confidence: 99%
“…The use of qualitative diagnostic ultrasound for muscle disorders has been reported in Duchenne muscular dystrophy [13], Pompe disease [14,27] and other inherited muscular disorders [28]. Recently, Ticinesi et al reviewed the published studies on detecting muscle mass loss in older populations [9].…”
Section: Discussionmentioning
confidence: 99%
“…State-of-the-art quantitative ultrasonography, which calculates the first and higher-order statistics according to the probability density function of grayscale, is widely available. The texture analysis of skeletal muscle ultrasonography has been shown to provide an objective and reliable method for differentiation between healthy and diseased muscles, such as Duchenne muscular dystrophy [13] and Pompe disease [14]. Quantitative texture features would represent the orientation and distribution of the echo patterns in muscular structures.…”
Section: Introductionmentioning
confidence: 99%
“…Muscle US has been used to differentiate between affected and unaffected muscle tissue in both IOPD and LOPD infants and can be done in a matter of minutes [ 13 ]. Previous studies have indicated that worsening muscle US findings correlate with increased CK/ALT and diminished physical function in clinically diagnosed adults with LOPD [ 14 , 15 ]. Muscle US is less expensive than MRI, can be provided at point-of-care, and does not require sedation, making it an optimal modality for evaluating muscle.…”
Section: Introductionmentioning
confidence: 99%