scholarly journals Skeletal muscle magnetic resonance biomarkers in GNE myopathy

Neurology ◽  
2020 ◽  
pp. 10.1212/WNL.0000000000011231
Author(s):  
Chia-Ying Liu ◽  
Jianhua Yao ◽  
William C. Kovacs ◽  
Joseph A. Shrader ◽  
Galen Joe ◽  
...  

ObjectivesTo characterize muscle involvement and evaluate disease severity in patients with GNE myopathy using skeletal muscle MRI and proton magnetic resonance spectroscopy (1H-MRS).MethodsSkeletal muscle imaging of the lower extremities was performed in 31 patients with genetically confirmed GNE myopathy, including T1-weighted and STIR images, T1 and T2 mapping and 1H-MRS. Measures evaluated included longitudinal relaxation time (T1), transverse relaxation time (T2), and 1H-MRS fat fraction (FF). Thigh muscle volume was correlated with relevant measures of strength, function, and patient-reported outcomes.ResultsThe cohort was representative of a wide range of disease progression. Contractile thigh muscle volume ranged from 5.51% to 62.95%, and correlated with thigh strength (r = 0.91), the 6-minute walk test (r = 0.82), the adult myopathy assessment tool (r = 0.83), the activities-specific balance confidence scale (r = 0.65), and the inclusion body myositis functional rating scale (r = 0.62). Four stages of muscle involvement were distinguished by qualitative (T1W and STIR images) and quantitative methods: stage I) Unaffected muscle (T1 = 1,033 ± 74.2 ms, T2 = 40.0 ± 1.9 ms, FF = 7.4 ± 3.5%); Stage II) STIR hyperintense muscle with minimal or no fat infiltration (T1 = 1,305 ± 147 ms, T2 = 50.2 ± 3.5 ms, FF = 27.6 ± 12.7%); Stage III) Fat infiltration and STIR hyperintensity (T1 = 1,209 ± 348 ms, T2 = 73.3 ± 12.6 ms, FF = 57.5 ± 10.6%); and Stage IV) Complete fat replacement (T1 = 318 ± 39.9 ms, T2 = 114 ± 21.2 ms, FF = 85.6 ± 4.2%). 1H-MRS showed a significant decrease in intramyocellular lipid and trimethylamines (TMA) between stage I and II, suggesting altered muscle metabolism at early stages.ConclusionMRI biomarkers can monitor muscle involvement and determine disease severity non-invasively in patients with GNE myopathy.ClinicalTrials.gov IdentifierNCT01417533.

1988 ◽  
Vol 11 (2) ◽  
pp. 97-102 ◽  
Author(s):  
Kiichiro Matsumura ◽  
Imaharu Nakano ◽  
Nobuo Fukuda ◽  
Hiroo Ikehira ◽  
Yukio Tateno ◽  
...  

2021 ◽  
pp. 1-8
Author(s):  
Farzad Fatehi ◽  
Soroor Advani ◽  
Ali Asghar Okhovat ◽  
Bentolhoda Ziaadini ◽  
Hosein Shamshiri ◽  
...  

Background: Muscle MRI protocols have been developed to assess muscle involvement in a wide variety of muscular dystrophies. Different muscular dystrophies can involve muscle groups in characteristic patterns. These patterns can be identified in muscle MRI in the form of fatty infiltration. Objective: This study was conducted to add the existing knowledge of muscle MRI in GNE myopathy and evaluate the correlation of muscular involvement with different gene mutations. Methods: The MRI scans of the 18 GNE patients were analyzed retrospectively. Cluster analysis was done for grouping the muscles and patients. Results: The four muscles with the highest fat infiltration were adductor magnus, tibialis anterior, semitendinosus, and semimembranosus. Furthermore, three clusters of muscle involvement were found, including cluster 1, typical muscle involvement indicating muscles with the highest infiltration: extensor digitorum longus, gracilis, biceps femoris, soleus, gastrocnemius medial, adductor longus, tibialis anterior, adductor magnus, semimembranosus, semitendinosus; cluster 2, less typical muscle involvement indicating muscles with intermediate fat infiltration, peroneus longus, gastrocnemius lateral, and minimal fat infiltration in most of the patients, i.e., tibialis posterior; and cluster 3, atypical muscle involvement with low-fat infiltration: rectus femoris, sartorius, vastus intermedius, vastus medialis, and vastus lateralis. Conclusions: This study found three clusters of muscle involvement and three groups of patients among GNE patients. Hamstring muscles and the anterior compartment of the lower leg were the muscles with the highest fat infiltration. Moreover, a weak genotype-muscle MRI association was found in which tibialis posterior was more involved in patients with the most frequent mutation, i.e., C.2228T >  C (p.M743T) mutation; however, this finding may be related to longer disease duration.


Diseases ◽  
2020 ◽  
Vol 8 (3) ◽  
pp. 25
Author(s):  
Andre E. Modesto ◽  
Juyeon Ko ◽  
Charlotte E. Stuart ◽  
Sakina H. Bharmal ◽  
Jaelim Cho ◽  
...  

Background: Skeletal muscle has been implicated in the pathogenesis of type 2 diabetes but it has never been investigated in diabetes after pancreatitis. The aim was to investigate the relationship between psoas muscle volume (PMV) and diabetes in individuals after pancreatitis, as well as its associations with ectopic fat phenotypes and insulin traits. Methods: Individuals after an attack of pancreatitis and healthy individuals were studied in a cross-sectional fashion. All participants underwent magnetic resonance imaging, based on which PMV, skeletal muscle fat deposition (SMFD), as well as liver and intra-pancreatic fat depositions were derived. Fasting and postprandial blood samples were collected to calculate indices of insulin sensitivity and secretion. Linear regression analyses were conducted, adjusting for possible confounders (age, sex, body composition, comorbidities, use of insulin, and others). Results: A total of 153 participants were studied. PMV was significantly decreased in the diabetes group compared with healthy controls (β = −30.0, p = 0.034 in the most adjusted model). SMFD was significantly inversely associated with PMV (β = −3.1, p < 0.001 in the most adjusted model). The Matsuda index of insulin sensitivity was significantly directly associated with PMV (β = 1.6, p = 0.010 in the most adjusted model). Conclusions: Diabetes in individuals after pancreatitis is characterized by reduced PMV. Reduced PMV is associated with increased SMFD and decreased insulin sensitivity in individuals after pancreatitis.


2019 ◽  
Vol 3 (1) ◽  
Author(s):  
Stephanie Inhuber ◽  
Nico Sollmann ◽  
Sarah Schlaeger ◽  
Michael Dieckmeyer ◽  
Egon Burian ◽  
...  

After publication of this article [1], it is noticed it contained some errors in the Methods section.


1992 ◽  
Vol 72 (4) ◽  
pp. 1493-1498 ◽  
Author(s):  
B. M. Hather ◽  
G. R. Adams ◽  
P. A. Tesch ◽  
G. A. Dudley

Eight subjects participated in a 6-wk unilateral lower limb suspension (ULLS) study to determine the influence of reduced weight bearing on human skeletal muscle morphology. The right shoe was outfitted with a platform sole that prevented the left foot from bearing weight while walking with crutches, yet it allowed freedom of movement about the ankle, knee, and hip. Magnetic resonance images pre- and post-ULLS showed that thigh muscle cross-sectional area (CSA) decreased (P less than 0.05) 12% in the suspended left lower limb, whereas right thigh muscle CSA did not change. Likewise, magnetic resonance images collected post-ULLS showed that muscle CSA was 14% smaller (P less than 0.05) in the left than in the right leg. The decrease in muscle CSA of the thigh was due to a twofold greater response of the knee extensors (-16%, P less than 0.05) than knee flexors (-7%, P less than 0.05). The rectus femoris muscle of the knee extensors showed no change in CSA, whereas the three vastus muscles showed similar decreases of approximately 16% (P less than 0.05). The apparent atrophy in the leg was due mainly to reductions in CSA of the soleus (-17%) and gastrocnemius muscles (-26%). Biopsies of the left vastus lateralis pre- and post-ULLS showed a 14% decrease (P less than 0.05) in average fiber CSA. The decrease was evident in both type I (-12%) and II (-15%) fibers. The number of capillaries surrounding the different fiber types was unchanged after ULLS.(ABSTRACT TRUNCATED AT 250 WORDS)


2011 ◽  
Vol 26 (10) ◽  
pp. 1252-1259 ◽  
Author(s):  
Douglas M. Sproule ◽  
Megan J. Montgomery ◽  
Mark Punyanitya ◽  
Wei Shen ◽  
Stephen Dashnaw ◽  
...  

2021 ◽  
Vol 12 ◽  
pp. 67
Author(s):  
Masahito Katsuki ◽  
Norio Narita ◽  
Keisuke Sasaki ◽  
Yoshimichi Sato ◽  
Yasuhiro Suzuki ◽  
...  

Background: Skeletal muscle mass is an important factor for various diseases’ outcomes. The psoas muscle cross-sectional area on the abdominal computed tomography (CT), gait speed, and handgrip strength is used to measure it. However, it is difficult to measure the neurological patients’ muscle mass or function because (1) we do not perform abdominal CT. (2) Such patients have impaired consciousness, gait disturbance, paresis, and need of rest. Temporal muscle thickness (TMT) on magnetic resonance imaging (MRI) is now attractive for skeletal muscle volume indicator, but the reference values are not established. We herein investigated the standard value of the Japanese TMT using the brain check-up database by MRI. Methods: We retrospectively investigated 360 Japanese individuals from two institutions between 2017 and 2019. We measured TMT on the T1-weighted images in the previously reported way. The associations between TMT and other variables were analyzed. Results: TMT of 214 women and 146 men, ranging from 35 to 84 years old, was investigated. TMT ranged from 3.69 to 16.90 mm. Mean TMT values were significantly higher in men compared to women except for the over 70-year-old cohort. TMT was correlated to weight and body mass index in both sexes. Conclusion: This is the first retrospective study on the standard TMT values from the Japanese brain check-up database. Our results were just reference values, but these would be useful for further investigation in other neurosurgical and neurological diseases regarding muscle volume or sarcopenia.


2021 ◽  
Vol 40 (1) ◽  
Author(s):  
Masashi Taniguchi ◽  
Yosuke Yamada ◽  
Masahide Yagi ◽  
Ryusuke Nakai ◽  
Hiroshige Tateuchi ◽  
...  

Abstract Background The primary aim of this study was to investigate whether using the extracellular water/intracellular water (ECW/ICW) index and phase angle combined with segmental-bioimpedance analysis (BIA) improved the model fitting of skeletal muscle volume (SMV) estimation. The secondary aim was to compare the accuracy of segmental-BIA with that of ultrasound for estimating the quadriceps SMV measured with MRI. Methods Seventeen young men (mean age, 23.8 ± 3.3 years) participated in the study. The T-1 weighted images of thigh muscles were obtained using a 1.5 T magnetic resonance imaging (MRI) scanner. Thigh and quadriceps SMVs were calculated as the sum of the products of anatomical cross-sectional area and slice thickness of 6 mm across all slices. Segmental-BIA was applied to the thigh region, and data on the 50-kHz bioelectrical impedance (BI) index, ICW index, ECW/ICW index, and phase angle were obtained. The muscle thickness index was calculated as the product of the mid-thigh muscle thickness, determined using ultrasound, and thigh length. The standard error of estimate (SEE) of the regression equation was calculated to determine the model fitting of SMV estimation and converted to %SEE by dividing the SEE values by the mean SMV. Results Multiple regression analysis indicated that the combination of 50-kHz BI and the ECW/ICW index or phase angle was a significant predictor when estimating thigh SMV (SEE = 7.9 and 8.1%, respectively), but were lower than the simple linear regression (SEE = 9.4%). The ICW index alone improved the model fitting for the estimation equation (SEE = 7.6%). The model fitting of the quadriceps SMV with the 50-kHz BI or ICW index was similar to that with the skeletal muscle thickness index measured using ultrasound (SEE = 10.8, 9.6 and 9.7%, respectively). Conclusions Combining the traditionally used 50-kHz BI index with the ECW/ICW index and phase angle can improve the model fitting of estimated SMV measured with MRI. We also showed that the model suitability of SMV estimation using segmental-BIA was equivalent to that on using ultrasound. These data indicate that segmental-BIA may be a useful and cost-effective alternative to the gold standard MRI for estimating SMV.


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