Severe Fatty Infiltration Research Articles

Quantitative ultrasound assessment of fatty infiltration of the rotator cuff muscles using backscatter coefficient

BackgroundTo prospectively evaluate ultrasound backscatter coefficients (BSCs) of the supraspinatus and infraspinatus muscles and compare with Goutallier classification on magnetic resonance imaging (MRI).MethodsFifty-six participants had shoulder MRI exams and ultrasound exams of the supraspinatus and infraspinatus muscles. Goutallier MRI grades were determined and BSCs were measured. Group means were compared and the strength of relationships between the measures were determined. Using binarized Goutallier groups (0–2 versus 3–4), areas under the receiver operating characteristic curves (AUROCs) were calculated. The nearest integer cutoff value was determined using Youden’s index.ResultsBSC values were significantly different among most Goutallier grades for the supraspinatus and infraspinatus muscles (both p < 0.001). Strong correlations were found between the BSC values and Goutallier grades for the supraspinatus (τb = 0.72, p < 0.001) and infraspinatus (τb = 0.79, p < 0.001) muscles. BSC showed excellent performance for classification of the binarized groups (0–2 versus 3–4) for both supraspinatus (AUROC = 0.98, p < 0.0001) and infraspinatus (AUROC = 0.98, p < 0.0001) muscles. Using a cutoff BSC value of −17 dB, sensitivity, specificity, and accuracy for severe fatty infiltration were 87.0%, 90.0%, and 87.5% for the supraspinatus muscle, and 93.6%, 87.5%, and 92.7% for the infraspinatus muscle.ConclusionBSC can be applied to the rotator cuff muscles for assessment of fatty infiltration. For both the supraspinatus and infraspinatus muscles, BSC values significantly increased with higher Goutallier grades and showed strong performance in distinguishing low versus high Goutallier grades.Relevance statementFatty infiltration of the rotator cuff muscles can be quantified using BSC values, which are higher with increasing Goutallier grades.Key PointsUltrasound BSC measurements are reliable for the quantification of muscle fatty infiltration.BCS values increased with higher Goutallier MRI grades.BCS values demonstrated high performance for distinguishing muscle fatty infiltration groups.Graphical

The Role of Paraspinal Muscle in Postoperative Coronal Balance Transition in Degenerative Lumbar Scoliosis: A 2-year Follow-up Study.

Retrospective observational study. The purpose of this study was to determine whether paraspinal muscle could influence postoperative coronal balance and its transition in degenerative lumbar scoliosis (DLS). Although the importance of the paraspinal muscles (PSM) in sagittal alignment is well recognized, there is no information about its role in coronal balance. The study included 102 DLS patients. Evaluation of the PSM on magnetic resonance imaging were conducted at baseline. Coronal measurements included coronal balance distance (CBD), major Cobb angle, L4 coronal tilt, and L5 coronal tilt. The cohort was divided based on postoperative parameters into persistent coronal balance (PCB), worsened coronal imbalance (WCIB), recurrent coronal balance (RCB), and persistent coronal imbalance (PCIB) according to immediate postoperative and follow-up coronal balance. Multivariate logistic regression models for postoperative CIB, follow-up WCIB and follow-up RCB were utilized to identify statistically significant associations while accounting for confounders. The cohort was divided into 57 with PCB, 13 with WCIB, 10 with RCB, and 22 with PCIB. The follow-up groups with CIB exhibited more severe fatty infiltration in the extensor muscle compared to the balanced groups. Specifically, the WCIB group demonstrated the most severe extensor muscle degeneration, particularly on the concave sides, and the most prominent asymmetrical degeneration of the PSM among the four groups. Furthermore, patients with CIB had worse sagittal malalignment compared to those with CB at the last follow up. Patients exhibiting stronger extensor muscle mass were prone to immediate postoperative CB and more likely to experience spontaneous improvement or recurrence of coronal balance during follow-up. Severe extensor muscle degeneration and prominent asymmetrical bilateral PSM degeneration represent potential risk factors for persistent CIB and recurrent CIB. It is crucial to assess the dynamic change during the follow-up period as long-term prognosis may be impacted if CB deteriorates, or otherwise develops during follow-up. 3.

Clinical and pathological characteristics of OPDM4 patients in advanced disease.

Oculopharyngodistal myopathy type 4 (OPDM4) arises from a CGG repeat expansion in the 5' UTR of the RILPL1 gene. Reported cases of OPDM4 have been limited. The aim of this study was to investigate the clinical and myopathological characteristics of OPDM4 patients with advanced disease. We assessed a total of 8 affected and 12 unaffected individuals in an OPDM4 family with autosomal dominant inheritance. Muscle biopsy tissue from the proband underwent histological, enzyme histochemical, and immunohistochemical stains, and electron microscopy analysis. Whole exome sequencing and repeat primer PCR (RP-PCR) were conducted to investigate underlying variants. OPDM4 patients displayed a progressive disease course. Most experienced lower limb weakness and diminished walking ability in their 20s and 30s, followed by ptosis, ophthalmoplegia, swallowing difficulties, and dysarthria in their 30s to 50s, By their 50s to 70s, they became non-ambulatory. Muscle magnetic resonance imaging (MRI) of the proband in advanced disease revealed severe fatty infiltration of pelvic girdle and lower limb muscles. Biopsied muscle tissue exhibited advanced changes typified by adipose connective tissue replacement and the presence of multiple eosinophilic and p62-positive intranuclear inclusions. Immunopositivity for the intranuclear inclusions was observed with anti-glycine antibody and laboratory-made polyA-R1 antibody. RP-PCR unveiled an abnormal CGG repeat expansion in the 5' UTR of the RILPL1 gene. The clinical and radiological features in this family broaden the phenotypic spectrum of OPDM4. The presence of intranuclear inclusions in the proliferative adipose connective tissues of muscle biopsy specimens holds diagnostic significance for OPDM4 in advanced disease.

The Differences on the Fatty Infiltration of Paraspinal Muscles between Single- and Multiple-level Intervertebral Disc Degeneration in Patients with Lumbar Disc Herniation.

Multiple-level Intervertebral disc degeneration (IDD) in patients with lumbar disc herniation (LDH) is related to postoperative re-herniation and low back pain. Although many investigators believed that there is an interdependence between paraspinal muscles degeneration and IDD, few studies focused on the fatty infiltration of paraspinal muscles on single- and multiple-level IDD in patients with LDH. This study aims to investigate the difference on the fatty infiltration of paraspinal muscles between single- and multiple-levels IDD in patients with LDH. and to explore in patients with LDH whether fatty infiltration is a potential risk factor for multiple-level IDD. This study was conducted as a retrospective observational analysis of 82 patients with LDH from January 1, 2020 to December 30, 2020 in our hospital were enrolled. Twenty-seven cases had single-level IDD (Group A), and 55 cases had multiple-level IDD (Group B). We measured the mean computed tomography (CT) density value of the paraspinal muscles, including multifidus (MF), erector spinae (ES) and psoas muscle (PM) at each disc from L1 to S1. Subgroups were set to further analyze the odds ratio (OR) of fatty infiltration of paraspinal muscles in different sex and BMI groups. We measured sagittal angles and analyzed the relationships between these angles and IDD. Finally, we use logistic regression, adjusted for other confounding factors, to investigate whether fatty infiltration is an independent risk factor for multi-level IDD. The average age in multi-level IDD (51.40 ± 15.47 years)was significantly higher than single-level IDD (33.37 ± 7.10 years). The mean CT density value of MF, ES and PM in single-level IDD was significantly higher than multi-level IDD (all ps < 0.001). There was no significant difference of the mean value of angles between the two groups. No matter being fat (body mass index [BMI] > 24.0 kg/m2) or normal, patients with low mean muscle CT density value of MF and ES are significantly easier to suffer from multiple-level IDD. In the pure model, the average CT density value of the MF, ES and PM is all significantly associated with the occurrence of multi-IDD. However, after adjusting for various confounding factors, only the OR of the average CT density value for MF and ES remains statistically significant (OR = 0.810, 0.834, respectively). In patients with LDH, patients with multiple-level IDD have more severe fatty infiltration of MF and ES than those with single-level IDD. Fatty infiltration of MF and ES are independent risk factors for multiple-level IDD in LDH patients.

Medial scapular body (MSB) Goutallier classification: MRI-based reliability and validity of evaluation of the Goutallier classification for grading fatty infiltration of the rotator cuff

IntroductionThe degree of atrophy and fatty infiltration of rotator cuff muscle belly is a key predictor for cuff repairability. Traditionally, Goutallier grading of fatty infiltration is assessed at sagittal scapular Y-view. Massive rotator cuff tears are associated with tendon retraction and medial retraction of cuff musculature, resulting in medialization of the muscle bulk. Thus, standard Y-view can misrepresent the region of interest and may misguide clinicians when assessing repairability. It is hypothesized that by assessing the muscle belly with multiple medial sagittal MRI sections at medial scapular body, the Medial Scapular Body - Goutallier Classification (MSB-GC) will improve reliability and repeatability giving a more representative approximation to the degree of fatty infiltration, as compared with original Y-view. MethodsFatty infiltration of the rotator cuff muscles were classified based on the Goutallier grade (0 to 4) at three defined sections section 1: original Y-view; section 2: level of suprascapular notch; section 3: three cm medial to suprascapular notch on MRI scans. Six sub-specialist fellowship trained shoulder surgeons, and three musculoskeletal radiologists independently evaluated deidentified MRI scans of included patients. ResultsOut of 80 scans, 78% (n=62) were massive cuff tears involving supraspinatus, infraspinatus and subscapularis tendon. Inter-observer reliability (consistency between observers) for Goutallier grade was excellent for all three predefined sections (range:0.87–0.95). Intra-observer reliability (repeatability) for Goutallier grade was excellent for all three sections and four rotator cuff muscles (range:0.83-0.97). There was a moderate to strong positive correlation of Goutallier grades between sections 1 and 3 and between sections 2 and 3 and these were statistically significant (p<0.001). There was a reduction in the severity of fatty infiltration on the Goutallier classification from sections 1 to 3 across all muscles. 42.5% of both supraspinatus and infraspinatus were downgraded by one, 20% of supraspinatus and 3.8% of infraspinatus were downgraded by 2 and 2.5% of supraspinatus were downgraded by 3. ConclusionThis study found that applying the Goutallier classification to more medial MRI sections (MSB-GC) resulted in assignment of lower grades for all rotator cuff muscles. Additionally, this method demonstrated excellent test-retest reliability and repeatability. Inclusion of a more medial view or whole scapula on MRI, especially in advanced levels of tear retraction, could be more reliable and representative for assessment of the degree of fatty infiltration within the muscle bulk that could help predict tear repairability and therefore improve clinical decision-making which should be studied further in clinical studies.

Natural History of Quantitative Fatty Infiltration and 3D Muscle Volume After Nonoperative Treatment of Symptomatic Rotator Cuff Tears: A Prospective MRI Study of 79 Patients.

The severity of fatty infiltration (FI) predicts the treatment outcome of rotator cuff tears. The purpose of this investigation was to quantitatively analyze supraspinatus (SSP) muscle FI and volume at the initial presentation and after a 3-month minimum of conservative management. We hypothesized that progression of FI could be predicted with initial tear size, FI, and muscle volume. Seventy-nine shoulders with rotator cuff tears were prospectively enrolled, and 2 magnetic resonance imaging (MRI) scans with 6-point Dixon sequences were acquired. The fat fraction within the SSP muscle was measured on 3 sagittal slices, and the arithmetic mean was calculated (FI SSP ). Advanced FI SSP was defined as ≥8%, pathological FI SSP was defined as ≥13.5%, and relevant progression was defined as a ≥4.5% increase in FI SSP . Furthermore, muscle volume, tear location, size, and Goutallier grade were evaluated. Fifty-seven shoulders (72.2%) had normal FI SSP , 13 (16.5%) had advanced FI SSP , and 9 (11.4%) had pathological FI SSP at the initial MRI scan. Eleven shoulders (13.9%) showed a ≥4.5% increase in FI SSP at 19.5 ± 14.7 months, and 17 shoulders (21.5%) showed a ≥5-mm 3 loss of volume at 17.8 ± 15.3 months. Five tears (7.1%) with initially normal or advanced FI SSP turned pathological. These tears, compared with tears that were not pathological, had significantly higher initial mediolateral tear size (24.8 compared with 14.3 mm; p = 0.05), less volume (23.5 compared with 34.2 mm 3 ; p = 0.024), more FI SSP (9.6% compared with 5.6%; p = 0.026), and increased progression of FI SSP (8.6% compared with 0.5%; p < 0.001). An initial mediolateral tear size of ≥20 mm yielded a relevant FI SSP progression rate of 81.8% (odds ratio [OR], 19.0; p < 0.001). Progression rates of 72.7% were found for both initial FI SSP of ≥9.9% (OR, 17.5; p < 0.001) and an initial anteroposterior tear size of ≥17 mm (OR, 8.0; p = 0.003). Combining these parameters in a logistic regression analysis led to an area under the receiver operating characteristic curve (AUC) of 0.913. The correlation between FI SSP progression and the time between MRI scans was weak positive (ρ = 0.31). Three risk factors for relevant FI progression, quantifiable on the initial MRI, were identified: ≥20-mm mediolateral tear size, ≥9.9% FI SSP , and ≥17-mm anteroposterior tear size. These thresholds were associated with a higher risk of tear progression: 19 times higher for ≥20-mm mediolateral tear size, 17.5 times higher for ≥9.9% FI SSP , and 8 times higher for ≥17-mm anteroposterior tear size. The presence of all 3 yielded a 91% chance of ≥4.5% progression of FI SSP within a mean of 19.5 months. Diagnostic Level II . See Instructions for Authors for a complete description of levels of evidence.

Predictive Factors for Residual Low Back Pain Following Percutaneous Endoscopic Lumbar Discectomy in Patients with Lumbar Disc Herniation.

BACKGROUND Percutaneous endoscopic lumbar discectomy (PELD) is a mature and popular surgery for treatment of lumbar disc herniation (LDH). The main objective of our study was to identify risk factors for residual low back pain after PELD and to improve postoperative management. MATERIAL AND METHODS We retrospectively analyzed the clinical and imaging data of 251 patients who underwent PELD for LDH. We defined residual LBP as visual analog scale (VAS) score for LBP ≥3 at 2 years postoperatively, and severe LBP was defined as VAS for LBP ≥7.5. The clinical and imaging data were analyzed by comparing patients with VAS scores ≥3 and <3, and univariate analysis and multivariable logistic regression analysis were applied to predict the risk factors for residual LBP. RESULTS There were 56 (22.3%) patients with LBP VAS ≥3 at 2 years postoperatively. Multivariable logistic regression analysis demonstrated that severe baseline VAS for LBP (P<0.001), MCs type I (P=0.006), and severe fatty infiltration of the paravertebral muscles (P<0.001) were independent risk factors for residual LBP after PELD. CONCLUSIONS In patients with LDH, MCs type I, severe baseline LBP, and fatty infiltration of the paravertebral muscles were predictive factors for residual LBP after PELD. Our study suggests that spine surgeons should pay more attention to these imaging parameters, which may be a helpful indicator for the choice of surgical modality.

Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients

BackgroundLimb-girdle muscular dystrophies (LGMDs) are a group of heterogeneous inherited diseases predominantly characterized by limb-girdle muscle weakness and dystrophic changes on histological analysis. The frequency of LGMD subtypes varies among regions in China and ethnic populations worldwide. Here, we analyzed the prevalence of LGMD subtypes, their corresponding clinical manifestations, and molecular data in a cohort of LGMD patients in Southeast China.MethodsA total of 81 consecutive patients with clinically suspected LGMDs from 62 unrelated families across Southeast China were recruited for targeted next-generation sequencing and whole-exome sequencing from July 2017 to February 2020.ResultsAmong 50 patients (41 families) with LGMDs, the most common subtypes were LGMD-R2/LGMD2B (36.6%) and LGMD-R1/LGMD2A (29.3%). Dystroglycanopathies (including LGMD-R9/LGMD2I, LGMD-R11/LGMD2K, LGMD-R14/LGMD2N and LGMD-R20/LGMD2U) were the most common childhood-onset subtypes and were found in 12.2% of the families. A total of 14.6% of the families had the LGMD-R7/LGMD2G subtype, and the mutation c.26_33dupAGGTGTCG in TCAP was the most frequent (83.3%). The only patient with the rare subtype LGMD-R18/LGMD2S had TRAPPC11 mutations; had a later onset than those previously reported, and presented with proximal‒distal muscle weakness, walking aid dependency, fatty liver disease and diabetes at 33 years of age. A total of 22.0% of the patients had cardiac abnormalities, and one patient with LMNA-related muscular dystrophy/LGMD1B experienced sudden cardiac death at 37 years of age. A total of 15.4% of the patients had restrictive respiratory insufficiency. Muscle imaging in patients with LGMD-R1/LGMD2A and LGMD-R2/LGMD2B showed subtle differences, including more severe fatty infiltration of the posterior thigh muscles in those with LGMD-R1/LGMD2A and edema in the lower leg muscles in those with LGMD-R2/LGMD2B.ConclusionWe determined the prevalence of different LGMD subtypes in Southeast China, described the detailed clinical manifestations and distinct muscle MRI patterns of these LGMD subtypes and reported the frequent mutations and the cardiorespiratory involvement frequency in our cohort, all of which might facilitate the differential diagnosis of LGMDs, allowing more timely treatment and guiding future clinical trials.

Fatty infiltration of the erector spinae at the upper lumbar spine could be a landmark for low back pain.

Intervertebral disc degeneration (IVDD), Modic changes, and fatty infiltration in the paraspinal muscles are possible causes of low back pain (LBP). Multifidus has been the most commonly blamed paraspinal muscle in the etiology of LBP. However, it contributes to 20% of the extensor moment on the lumbar spine. In the present study, we aimed to identify whether patients with LBP and asymptomatic subjects differed in terms of intervertebral discs, end-plates, and fatty infiltration in their paraspinal muscles. Consecutive women and men, who visited the spine outpatient clinics with chronic LBP and had lumbar spine MRI for their LBP without leg pain were included. Asymptomatic subjects without LBP/leg pain for the last year were recruited. Modic changes, IVDD, and fatty infiltration in the paraspinal muscles were evaluated on lumbar spine magnetic resonance imagings of the patients with LBP and age-, gender- and BMI-matched asymptomatic controls. Low back pain was closely associated with fatty infiltration in the paraspinal muscles at all lumbar levels whereas it had association with severe IVDD and Modic changes at lower lumbar levels. Multifidus at the lower lumbar levels was the fattiest paraspinal muscle in both asymptomatic subjects and patients with LBP. Patients with LBP had severe fatty infiltration in the erector spinae at the upper lumbar levels. Severe IVDD and Modic changes were more common at lower lumbar levels in patients with LBP. Both asymptomatic subjects and those with LBP had fatty multifidus at lower lumbar levels, whereas those with LBP had fatty infiltration in the erector spinae at upper lumbar levels. We suggest that fatty infiltration could have started in the multifidus. The erector spinae had greater contribution to the lumbar extension compared to the multifidus. Thus, LBP could develop when the quality of the erector spinae at the upper lumbar levels impairs due to fatty infiltration.

Hepatocellular carcinoma in patients with non-alcoholic fatty liver disease is associated with heterogeneous pattern of fat infiltration in skeletal muscles.

To evaluate the association between fat infiltration in skeletal muscles (myosteatosis) and hepatocellular carcinoma (HCC) in patients with non-alcoholic fatty liver disease (NAFLD). In a cross-sectional cohort of 72 histologically proven NAFLD patients (n = 38 with non-alcoholic steatohepatitis; NASH), among which 20 had HCC diagnosed on biopsy, we used proton density fat fraction (PDFF) at MRI to evaluate myosteatosis in skeletal muscles (mean fat fraction and first order radiomic-based pattern) at the third lumbar level, namely in erector spinae (ES), quadratus lumborum (QL), psoas, oblique, and rectus muscles. PDFFES was 70% higher in patients with HCC when compared to those without HCC (9.6 ± 5.5% versus 5.7 ± 3.0%, respectively, p < 0.001). In multivariate logistic regression, PDFFES was a significant predictor of the presence of HCC (AUC = 0.72, 95% CI 0.57-0.86, p = 0.002) independently from age, sex, visceral fat area, and liver fibrosis stage (all p < 0.05). The relationship between PDFFES and HCC was exacerbated in patients with NASH (AUC = 0.79, 95% CI 0.63-0.86, p = 0.006). In patients with NASH, radiomics features of heterogeneity such as energy and entropy in any of the paraspinal muscles (i.e., ES, QL, or psoas) were independent predictors of HCC. EnergyES identified patients with HCC (n = 13) in the NASH population with AUC = 0.92 (95% CI 0.82-1.00, p < 0.001). In patients with NAFLD, and more specifically in those with NASH, the degree and heterogeneity of myosteatosis is independently associated with HCC irrespective of liver fibrosis stage. Our data suggest that myosteatosis could be used as a biomarker of HCC in the ever-expanding NAFLD population and pave the way for further investigation in longitudinal studies. • HCC in patients with non-alcoholic fatty liver disease, and more specifically in those with non-alcoholic steatohepatitis, is independently associated with severe fatty infiltration (myosteatosis) of paravertebral skeletal muscles. • Association between myosteatosis and HCC is independent from liver fibrosis stage. • Histogram-based radiomics features of myosteatosis predicts the risk of HCC in patients with non-alcoholic steatohepatitis.

Investigating the Correlation Between Clinical and Laboratory Findings With the Degree of the Fatty Liver Using Sonography in Pediatric Patients

Objective: The prevalence of fatty liver disease is increasing among children. The aim of this study was to investigate a possible association between clinical and laboratory findings with the degree of fatty liver deposition, in pediatric patients. Materials and Methods: This study enrolled 323 pediatric patients with suspected fatty liver disease, who underwent a liver sonogram. The amount of fatty infiltration, within the liver, was assessed. The clinical data include age and body mass index (BMI), which were collected from their medical records. Results: The liver sonogram revealed fatty infiltration in 212 (66%) of the patients. Of those patients, 120 (38%) displayed mild infiltration, 65 (20%) exhibited moderate infiltration, and 27 (8%) demonstrated severe infiltration. Patients with severe fatty infiltration had significantly higher levels of alanine aminotransferase (ALT). The different levels of aspartate aminotransferase (AST), among patients, with varied degrees of fatty infiltration, were not statistically significant. Conclusion: A liver sonogram can be utilized to assess liver damage and inflammation, in pediatric patients, with fatty liver disease. Sonographers should prioritize evaluating the liver size, hepatic vasculature, and liver parenchyma for signs of fatty infiltration. Monitoring ALT levels appears to be crucial in managing pediatric patients, with nonalcoholic fatty liver disease (NAFLD).

Suppressed Akt/GSK-3β/β-catenin signaling contributes to excessive adipogenesis of fibro-adipogenic progenitors after rotator cuff tears.

Muscular fatty infiltration is a common and troublesome pathology after rotator cuff tears (RCT), which mainly derives from fibro-adipogenic progenitors (FAPs). Compared to the RCT, fatty infiltration is not so severe in Achilles tendon tears (ATT). The knowledge of why fatty infiltration is more likely to occur after RCT is limited. In this study, more severe fatty infiltration was verified in supraspinatus than gastrocnemius muscles after tendon injury. Additionally, we revealed higher adipogenic differentiation ability of RCT-FAPs in vitro. Activation of Akt significantly stimulated GSK-3β/β-catenin signaling and thus decreased PPARγ expression and adipogenesis of RCT-FAPs, while the inhibition effect was attenuated by β-catenin inhibitor. Furthermore, Wnt signaling activator BML-284 limited adipogenesis of RCT-FAPs, alleviated muscular fatty infiltration, and improved parameters in gait analysis and treadmill test for RCT model. In conclusion, our study demonstrated that suppressed Akt/GSK-3β/β-catenin signaling increased PPARγ expression and thus contributed to excessive adipogenesis in RCT-FAPs. Modulation of Akt/GSK-3β/β-catenin signaling ameliorated excessive fatty infiltration of rotator cuff muscles and improved shoulder function after RCT.

The effect of fatty infiltration, revision surgery, and sex on lumbar multifidus passive mechanical properties.

Previous research has demonstrated increased stiffness in the multifidus muscle compared to other paraspinal muscles at the fiber bundle level. We aimed to compare single fiber and fiber bundle passive mechanical properties of multifidus muscle: (1) in 40 patients undergoing primary versus revision surgery and (2) in muscle with mild versus severe fatty infiltration. The degree of muscle fatty infiltration was graded using the patients' spine magnetic resonance images. Average single fiber and fiber bundle passive mechanical properties across three tests were compared between primary (N = 30) and revision (N = 10) surgery status, between mild and severe fatty infiltration levels, between sexes, and with age from passive stress-strain tests of excised multifidus muscle intraoperative biopsies. At the single fiber level, elastic modulus was unaffected by degree of fatty infiltration or surgery status. Female sex (p = 0.001) and younger age (p = 0.04) were associated with lower multifidus fiber elastic modulus. At the fiber bundle level, which includes connective tissue around fibers, severe fatty infiltration (p = 0.01) and younger age (p = 0.06) were associated with lower elastic modulus. Primary surgery also demonstrated a moderate, but non-significant effect for lower elastic modulus (p = 0.10). Our results demonstrate that female sex is the primary driver for reduced single fiber elastic modulus of the multifidus, while severity of fatty infiltration is the primary driver for reduced elastic modulus at the level of the fiber bundle in individuals with lumbar spine pathology.

Comprehensive pathological and genetic investigation of three young adult myotonic dystrophy type 1 patients with sudden unexpected death.

The mechanism and pathological substrate of arrhythmogenic events in dystrophic myopathy type 1 (DM1) have not been fully established, especially for patients without progression of motor and/or cardiac disability. Therefore, we aimed to clarify the pathological appearance and genetic factors, other than CTG repeats in DMPK, associated with sudden cardiac death in patients with DM1. A pathological investigation including the cardiac conduction system in the heart and whole-exome sequencing was conducted for three young adults (Patient 1; 25-year-old female, Patient 2; 35-year-old female, Patient 3; 18-year-old male) with DM1 who suffered sudden death. Only Patient 1 showed abnormal electrocardiogram findings before death. The pathological investigation showed severe fibrosis of the atrioventricular conduction system in Patient 1 and severe fatty infiltration in the right ventricle in Patient 2. Several minimal necrotic/inflammatory foci were found in both patients. Patient 3 showed no significant pathological findings. A genetic investigation showed CORIN_p.W813* and MYH2_p. R793* in Patient 1, KCNH2_p. V794D and PLEC_p. A4147T in Patient 2, and SCN5A_p.E428K and SCN3B_ p.V145L in Patient 3 as highly possible pathogenic variants. The present study showed varied heart morphology in young adults with DM1 and sudden death. Synergistic effects of various genetic factors other than CTG repeats may increase the risk of sudden cardiac death in DM1 patients, even if signs of cardiac and skeletal muscle involvement are mild. Comprehensive genetic investigations, other than CTG repeat assessment, may be useful to estimate the risk of sudden cardiac death in DM1 patients.

Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation

BackgroundSpinal muscular atrophy, lower extremity predominant (SMALED) is a type of non-5q spinal muscular atrophy characterised by weakness and atrophy of lower limb muscles without sensory abnormalities. SMALED1 can be caused by dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene variants. However, the phenotype and genotype of SMALED1 may overlap with those of other neuromuscular diseases, making it difficult to diagnose clinically. Additionally, bone metabolism and bone mineral density (BMD) in patients with SMALED1 have never been reported.MethodsWe investigated a Chinese family in which 5 individuals from 3 generations had lower limb muscle atrophy and foot deformities. Clinical manifestations and biochemical and radiographic indices were analysed, and mutational analysis was performed by whole-exome sequencing (WES) and Sanger sequencing.ResultsA novel mutation in exon 4 of the DYNC1H1 gene (c.587T > C, p.Leu196Ser) was identified in the proband and his affected mother by WES. Sanger sequencing confirmed that the proband and 3 affected family members were carriers of this mutation. As leucine is a hydrophobic amino acid and serine is hydrophilic, the hydrophobic interaction resulting from mutation of amino acid residue 196 could influence the stability of the DYNC1H1 protein. Leg muscle magnetic resonance imaging of the proband revealed severe atrophy and fatty infiltration, and electromyographic recordings showed chronic neurogenic impairment of the lower extremities. Bone metabolism markers and BMD of the proband were all within normal ranges. None of the 4 patients had experienced fragility fractures.ConclusionThis study identified a novel DYNC1H1 mutation and expands the spectrum of phenotypes and genotypes of DYNC1H1-related disorders. This is the first report of bone metabolism and BMD in patients with SMALED1.

The fatty infiltration into cervical paraspinal muscle as a predictor of postoperative outcomes: A controlled study based on hybrid surgery.

The cervical paraspinal muscle (CPM) has an essential role in positioning, stabilizing and directing the cervical spine. However, information is lacking regarding the influence of CPM on outcomes following anterior cervical surgery. This study aims to evaluate the association of fatty infiltration (FI) of CPM with postoperative outcomes in patients undergoing hybrid surgery (HS) and analyze the relationship between FI and cross-sectional area (CSA) of CPM. A retrospective analysis was performed on 110 consecutive patients undergoing continuous 2-level HS. According to Goutallier classification of multifidus FI, the patients were divided into normal, moderate, and severe groups. Image J software was employed to outline and analyze CPM. Clinical outcomes and radiographic parameters were collected and evaluated for relevant comparisons. Visible FI was identified in 69.1% of patients (76/110), with a propensity in elderly patients (p = 0.053). No statistically significant differences were presented among the three groups regarding pre- and postoperative clinical evaluation scores. The cervical lordosis was significantly higher in the normal group before surgery (p = 0.029). Likewise, the sagittal vertical axis (SVA) was significantly higher in the severe group than the normal group at the final follow-up (p = 0.046). The function spine unit angle and disc angle of arthroplasty levels were significantly lower in the severe group than the normal group at follow-ups. Moreover, after correction according to vertebral body area, no statistically significant relationship existed between CSA ratio and FI grade. CPM degeneration is common and age-related in patients with cervical disc degenerative disease. More importantly, there was a significant positive correlation between severe FI of CPM and postoperative sagittal balance disorder, particularly in C2-7 SVA and segmental alignment of arthroplasty level. Meanwhile, FI of CPM appears to have no impact on clinical outcomes and reveals small correlations to CSA.

The effect of a drug Cisplatin and Thymoquinone material in the liver of rats after the induced of cancer in laboratary

Cisplatin drug is one of platinum compounds and it is in common use world wide for the treatment of a variety of human neoplasms. However in high doses it can produceundesirable toxic side effects on liver, so in this study we investigated whether Thymoqunion has protective effect on hepatotoxicity induced by cisplatin or not. Four equal-sized groups(four rats each) of adult female rats with colon cancer induced in two group unless control group by used azoxymethane carcinogen were used as (control group, AOM group cisplatin group, Thymoqunion group (TQ)). It was detected for tumor by measuring the concentration CEA in serum, it was observed significant increase (P&lt;0.05) when injected article carcinogen totals compared with the control group. when the transaction ad these two articles focusing decreased response to treatment user. Histological examination of livers were carried out using light microscopy. Results showed that cisplatin produced histopathological changes in liver tissue, congestion and expansion of central veins, dilatation and congestion of sinusoids, with necrosis of liver cells and endothelial cells, severe fatty infiltration and necrotic foci in large areas from liver cells, congestion of sinusoids, while Thymoqunion not appear any side effect on liver tissue

Long-term outcomes of teres major transfer for irreparable posterosuperior rotator cuff tears in patients aged

Massive rotator cuff tears are defined as irreparable when tendon-to-bone or tendon-to-tendon continuity with the adducted arm cannot be restored and severe muscle fatty infiltration is present. Tendon transfer is a palliative procedure that improves shoulder function and relieves pain. We reviewed the records of patients aged <65 years, whose irreparable posterosuperior rotator cuff tears had been managed with teres major tendon transfer at our institution. Their 5- and 10-year clinical and radiographic follow-up records were examined to assess long-term outcomes. Patients' Constant Score, Disabilities of the Arm, Shoulder, and Hand score, and the visual analog scale for pain were calculated before the procedure and at 5 and 10 years. There were 24 consecutive patients aged <65 years (mean, 59; 12 men and 12 women) who had received no prior treatment except rehabilitation. All patients underwent teres major tendon transfer due to the failure of conservative treatment. The mean Constant Score was 26 preoperatively and 68 and 66 at 5 and 10 years, respectively (P=.0001 and P=.25). The mean Disabilities of the Arm, Shoulder, and Hand scores were 62.2 preoperatively and 7.8 and 9.3 at 5 and 10 years, respectively (P=.0009 and P=.1). The mean visual analog scale scores at rest were 6.1 preoperatively, and 0.3 and 0.5 at 5 and 10 years, respectively (P=.0003 and P=.1). Based on Hamada's classification, at 5 years, 3 patients showed grade 2 changes, and another had grade 3 changes; at 10 years, 7 patients showed grade 2 changes, and one showed grade 3 changes. Complications (8%) developed after the 10-year evaluation and included pain in 1 patient and secondary rupture of the transfer in another. Improving shoulder function and reducing pain in relatively young patients with irreparable posterosuperior cuff tears involves replacing the lost muscle with a muscle-tendon transfer. The chief aims of the procedure are to restore the balance with the subscapularis muscle, achieve joint stability, keep the humeral head in the glenoid cavity, and improve shoulder abduction and external rotation. Teres major tendon transfer can achieve these goals. Altogether, 22 of our 24 patients experienced improved daily activity function and pain relief that became stable after 5 years. Teres major transfers are useful surgical procedures, particularly in younger patients and in those with high functional demands, providing good and stable long-term results.

Effect of Muscularity and Fatty Infiltration of Paraspinal Muscles on Outcome of Lumbar Interbody Fusion.

Lumbar paraspinal muscles play an important role in maintaining global spinal alignment and are associated with lower back pain; however, only a few studies on the effect of the paraspinal muscles on the surgical outcome exist. Therefore, this study aimed to analyze the association of preoperative muscularity and fatty infiltration (FI) of paraspinal muscles with the outcome of lumbar interbody fusion. Postoperative clinical and radiographic outcomes were analyzed in 206 patients who underwent surgery for a degenerative lumbar disease. The preoperative diagnosis was spinal stenosis or low-grade spondylolisthesis, and the surgery performed was posterior lumbar interbody fusion or minimally invasive transforaminal lumbar interbody fusion. Indications for surgery were a complaint of severe radiating pain that did not improve with conservative treatment and neurological symptoms accompanied by lower extremity motor weakness. Patients with fractures, infections, tumors, or a history of lumbar surgery were excluded from this study. Clinical outcome measures included functional status, measured using the Oswestry disability index (ODI) and visual analog scale (VAS) score for lower back and leg pain. Other radiographic parameters included measures of spinal alignment, including lumbar lordosis, pelvic tilt, sacral slope, pelvic incidence, C7 sagittal vertical axis, and pelvic incidence-lumbar lordosis mismatch. Lumbar muscularity (LM) and FI were measured preoperatively using a lumbar magnetic resonance image (MRI). The high LM group showed more significant improvement in VAS score for lower back pain than the low LM group. In contrast, the VAS score for leg pain demonstrated no statistical significance. The high LM group showed more significant improvement in ODI postoperatively than the medium group. The severe FI group showed more significant improvement in ODI postoperatively, whereas the less severe FI group showed more significant improvement in the sagittal balance postoperatively. Patients with high LM and mild FI ratio observed on preoperative MRI demonstrated more favorable clinical and radiographic outcomes after lumbar interbody fusion. Therefore, preoperative paraspinal muscle condition should be considered when planning lumbar interbody fusion.

Effect of Fatty Infiltration of the Infraspinatus Muscle on Outcomes and Graft Failure After Arthroscopic Superior Capsule Reconstruction for Irreparable Posterosuperior Rotator Cuff Tears

Background: Superior capsule reconstruction (SCR) was developed as an alternative treatment for irreparable rotator cuff tears to restore superior stability of the glenohumeral joint. Although fatty infiltration (FI) of the rotator cuff muscles, especially the infraspinatus, has been implicated as a predictor of outcomes and graft integrity after rotator cuff repair, it has not been fully investigated in cases of SCR. Purpose: To evaluate the effect of FI of the infraspinatus muscle on clinical and radiological outcomes after SCR. Study Design: Cohort study; Level of evidence, 3. Methods: A total of 55 consecutive patients with irreparable posterosuperior rotator cuff tears who underwent SCR between January 2013 and August 2020 were included retrospectively. Preoperative and postoperative clinical and radiological findings (median follow-up of >2 years), including magnetic resonance imaging results, were thoroughly reviewed. The patients were divided into 2 groups: group 1 with mild FI of the infraspinatus (Goutallier grades 0-2) and group 2 with severe FI of the infraspinatus (Goutallier grades 3-4). The American Shoulder and Elbow Surgeons score, Constant score, visual analog scale score for pain, and range of motion were evaluated. Acromiohumeral distance and rotator cuff tear arthropathy using the Hamada classification were assessed on plain radiography. Postoperative graft integrity was evaluated by magnetic resonance imaging. Graft failure was defined as complete discontinuity. Univariate and multivariable logistic regression analyses were performed to evaluate clinical and radiological findings that might be associated with successful SCR. Results: Clinical and radiological outcomes significantly improved after SCR. Graft failure was noted in 15 (27.3%) patients and was more frequent in group 2 than in group 1 (50.0% vs 14.3%, respectively; P = .004). Univariate analysis indicated a significant association between severe FI in the infraspinatus (group 2) and graft failure after SCR (odds ratio, 6.00 [95% CI, 1.65-21.80]; P = .006). Multivariable analysis indicated that FI of the infraspinatus was the only factor associated with graft failure (odds ratio, 6.37 [95% CI, 1.63-24.90]; P = .008). Conclusion: Severe FI of the infraspinatus muscle was a factor indicating a poor prognosis for graft integrity after SCR. Preoperative evaluation of FI in the rotator cuff muscles can help predict postoperative outcomes and may help guide therapeutic options.