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Diagnostic differences in respiratory breathing patterns and work of breathing indices in children with Duchenne muscular dystrophy.

ABSTRACT: RATIONALE:Pulmonary function testing (PFT) provides diagnostic information regarding respiratory physiology. However, many forms of PFT are time-intensive and require patient cooperation. Respiratory inductance plethysmography (RIP) provides thoracoabdominal asynchrony (TAA) and work of breathing (WOB) data. pneuRIPTM is a noninvasive, wireless analyzer that provides real-time assessment of RIP via an iPad. In this study, we show that pneuRIPTM can be used in a hospital clinic setting to differentiate WOB indices and breathing patterns in children with DMD as compared to age-matched healthy subjects. METHODS:RIP using the pneuRIPTM was conducted on 9 healthy volunteers and 7 DMD participants (ages 5-18) recruited from the neuromuscular clinic, under normal resting conditions over 3-5 min during routine outpatient visits. The tests were completed in less than 10 minutes and did not add excessive time to the clinic visit. Variables recorded included labored-breathing index (LBI), phase angle (?) between abdomen and rib cage, respiratory rate (RR), percentage of rib cage input (RC%), and heart rate (HR). The data were displayed in histogram plots to identify distribution patterns within the normal ranges. The percentages of data within the ranges (0? ? ?30 deg.; median RC %±10%; median RR±5%; 1?LBI?1.1) were compared. Unpaired t-tests determined significance of the data between groups. RESULTS:100% patient compliance demonstrates the feasibility of such testing in clinical settings. DMD patients showed a significant elevation in ?, LBI, and HR averages (P<0.006, P<0.002, P<0.046, respectively). Healthy subjects and DMD patients had similar BPM and RC% averages. All DMD data distributions were statistically different from healthy subjects based on analysis of histograms. The DMD patients showed significantly less data within the normal ranges, with only 49.7% ?, 48.0% RC%, 69.2% RR, and 50.7% LBI. CONCLUSION:In this study, noninvasive pneuRIPTM testing provided instantaneous PFT diagnostic results. As compared to healthy subjects, patients with DMD showed abnormal results with increased markers of TAA, WOB indices, and different breathing patterns. These results are similar to previous studies evaluating RIP in preterm infants. Further studies are needed to compare these results to other pulmonary testing methods. The pneuRIPTM testing approach provides immediate diagnostic information in outpatient settings.

SUBMITTER: Ryan L

PROVIDER: S-EPMC6953871 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Diagnostic differences in respiratory breathing patterns and work of breathing indices in children with Duchenne muscular dystrophy.

Ryan Lauren L Rahman Tariq T Strang Abigail A Heinle Robert R Shaffer Thomas H TH

PloS one 20200110 1

<h4>Rationale</h4>Pulmonary function testing (PFT) provides diagnostic information regarding respiratory physiology. However, many forms of PFT are time-intensive and require patient cooperation. Respiratory inductance plethysmography (RIP) provides thoracoabdominal asynchrony (TAA) and work of breathing (WOB) data. pneuRIPTM is a noninvasive, wireless analyzer that provides real-time assessment of RIP via an iPad. In this study, we show that pneuRIPTM can be used in a hospital clinic setting to ...[more]

PMID: 31923192

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Project description:Dystrophinopathies cover a spectrum of rare progressive X-linked muscle diseases, arising from DMD mutations. They are among the most common pediatric muscular dystrophies, being Duchenne muscular dystrophy (DMD) the most severe form. Despite the fact that there is still no cure for these serious diseases, unprecedented advances are being made for the development of therapies for DMD. Some of which are already conditionally approved: exon skipping and premature stop codon read-through. The present work aimed to characterize the mutational spectrum of DMD in an Argentinian cohort, to identify candidates for available pharmacogenetic treatments and finally, to conduct a comparative analysis of the Latin American (LA) frequencies of mutations amenable for available DMD therapies. We studied 400 patients with clinical diagnosis of dystrophinopathy, implementing a diagnostic molecular algorithm including: MLPA/PCR/Sanger/Exome and bioinformatics. We also performed a meta-analysis of LA's metrics for DMD available therapies. The employed algorithm resulted effective for the achievement of differential diagnosis, reaching a detection rate of 97%. Because of this, corticosteroid treatment was correctly indicated and validated in 371 patients with genetic confirmation of dystrophinopathy. Also, 20 were eligible for exon skipping of exon 51, 21 for exon 53, 12 for exon 45 and another 70 for premature stop codon read-through therapy. We determined that 87.5% of DMD patients will restore the reading frame with the skipping of only one exon. Regarding nonsense variants, UGA turned out to be the most frequent premature stop codon observed (47%). According to the meta-analysis, only four LA countries (Argentina, Brazil, Colombia and Mexico) provide the complete molecular algorithm for dystrophinopathies. We observed different relations among the available targets for exon skipping in the analyzed populations, but a more even proportion of nonsense variants (∼40%). In conclusion, this manuscript describes the theragnosis carried out in Argentinian dystrophinopathy patients. The implemented molecular algorithm proved to be efficient for the achievement of differential diagnosis, which plays a crucial role in patient management, determination of the standard of care and genetic counseling. Finally, this work contributes with the international efforts to characterize the frequencies and variants in LA, pillars of drug development and theragnosis.

Dataset Information

Diagnostic differences in respiratory breathing patterns and work of breathing indices in children with Duchenne muscular dystrophy.

Publications

Diagnostic differences in respiratory breathing patterns and work of breathing indices in children with Duchenne muscular dystrophy.

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