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Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) myopathy is one of the subtypes of immune-mediated necrotizing myopathy. Anti-HMGCR antibodies induce complement activation,subsequently resulting in myofiber necrosis,regeneration with autophagy abnormalities and mitochondrial changes. The age of onset is from children to adulthood. Some patients have a history of exposure to statins. Most patients are subacute onset. The patients with chronic progressive process, are more like muscular dystrophy. The main symptoms are proximal symmetrical weakness of limbs and usually accompanied with extra-muscle symptoms. The MRI showed muscle edema in all patients and fatty infiltrates in some patients. Myositis-specific auto-antibodies and muscle biopsies play key roles in diagnosis of HMGCR myopathy. Corticosteroids and immunosuppressants were first line therapy. Pediatric patients or patients with chronic course are usually refractory, and the efficacy of different combinations of immunosuppressants needs to be further investigated.
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Objective:To explore the necessity of perioperative radiography by analyzing the risk factors for internal fixation loosening after closed reduction and internal fixation with Kirschner wire for supra-condylar fracture of the humerus in children.Methods:Retrospectively analyzed were the 502 patients with supracondylar fracture of the humerus who had been treated at Department of Orthopedics, Children's Hospital of Fudan University by closed reduction and internal fixation with Kirschner wire from January 1, 2019 to December 31, 2021. There were 307 boys and 195 girls, with an age of (60.0±27.2) months. There were 224 Gartland type Ⅱ supracondylar fractures and 278 Gartland type Ⅲ supracondylar fractures. Follow-ups revealed internal fixation loosening in 52 cases (set as a loosening group) and no internal fixation loosening in the other 460 cases (set as a non-loosening group). The angles between Kirschner wires (angle 1 and angle 2), the effective fixation ratios of the Kirschner wire (ratio 1, ratio 2, and ratio 3), the metaphyseal shaft angle α, and the distal anteversion angle of the humerus β were measured on the perioperative and postoperative elbow X-ray films and compared. Other data affecting the internal fixation loosening were collected. Multiple logistic regression was used to analyze the risk factors for internal fixation loosening after closed reduction and internal fixation of supracondylar fracture of the humerus. Results:There were no significant differences between the intraoperative and postoperative data in the angle 1 or angle 2 between Kirschner wires (26.58°±14.22° versus 26.75°±10.70°; 41.85°±8.67° versus 41.31°±7.79°), the effective fixation ratio 1, 2 or 3 of Kirschner wire (0.904±0.182 versus 0.887±0.206; 0.897±0.119 versus 0.895±0.142; 0.890±0.035 versus 0.889±0.076), the metaphyseal shaft angle α (86.25°±2.74° versus 85.52°±1.86°), or the distal anteversion angle of the humerus β (31.04°±0.97° versus 29.54°±0.45°) (all P>0.05). Multiple logistic regression analysis showed that fracture site ( P=0.032), fracture classification ( P=0.041) and postoperative infection ( P=0.004) were the risk factors for internal fixation loosening. Conclusions:As supracondylar fractures of the humerus remain stable in the perioperative period with little risk of fracture displacement or internal fixation loosening after closed reduction and internal fixation with Kirschner wire, postoperative radiography is not necessary. The risks for internal fixation loosening are positively correlated with fracture site, fracture type and postoperative infection.
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Objective:To summarize the clinical, pathological and muscle magnetic resonance imaging (MRI) features of human immunodeficiency virus (HIV)-associated nemaline myopathy (NM; HIV-NM).Methods:The present patient was a 23-year-old man with HIV infection who developed progressive proximal weakness and atrophy for more than 10 months. He was admitted to the Department of Neurology of Beijing Ditan Hospital in early June 2021. Electromyography showed myogenic findings. The serum creatine kinase was 202.4 U/L. CD 4+ count was 585×10 6/L. Serum monoclonal immunoglobulin (M protein) was negative. The patient underwent MRI examination of bilateral thigh muscles, biopsy of left biceps brachii and gene detection. The clinical, pathological and muscle MRI changes of HIV-NM were summarized based on the literature review. Results:MRI examination of bilateral thigh muscles showed edema changes. Muscle biopsy showed nemaline structures in some muscle fibers, accompanied by fiber atrophy and regeneration. No gene mutation related to clinical phenotype was found by second-generation sequencing. After intravenous immunoglobulin combined with prednisone, the patient′s weakness symptoms were significantly improved. A total of 17 cases of HIV-NM (including the present case) were identified in the literature, who were aged (33.7±9.1) years. Fifteen were males and two were females. All patients developed proximal limb weakness. Creatine kinase was normal or slightly elevated. Serum monoclonal protein was positive in 3 cases (3/7). Immunosuppressive therapy was effective.Conclusions:The main clinical characteristics of HIV-NM are progressive proximal limb weakness and muscle atrophy. The muscle pathology shows a large number of nemaline structures in atrophic muscle fibers. Muscle edema can be seen on muscle MRI. This is the first report of HIV-NM in China, which may be a special subtype of immune myopathy.
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Objective@#To analyze the diagnostic value of skeletal muscle biopsy in patients with rhabdomyolysis.@*Methods@#Clinical and pathological data of 26 patients with rhabdomyolysis from January 2002 to December 2018 undergoing muscle biopsy were collected.@*Results@#Eighteen males and 8 females were finally recruited with median age of 6-73 (37.3±19.6) years. The average time from onset to biopsy was 44 days (median course was 30 days). All patients had acute manifestations with muscle pain and/or weakness. Serum creatine kinase was between 1 648-92 660 U/L. Muscle biopsies showed nonspecific changes in 12 cases (a few with type 2 muscle fiber atrophy, slight deposition of lipid droplets), 10 cases with necrotizing myopathy (muscle fiber necrosis and regeneration). Toxic neurogenic damages were seen in 2 cases (type 1 and type 2 angular atrophic muscle fibers with group change), lipid storage disease in 1 case (lipid droplets deposit significantly) and idiopathic inflammatory myopathy in 1 case (muscle fiber necrosis and regeneration, with lymphocyte infiltration). The etiology of non-specific pathological changes included short-term strenuous exercise in 6 patients, poisoning in two, chronic kidney disease in one, viral infection in one, hypothyroidism in one and unknown reason in one. As to patients with necrotizing myopathy, seven were poisoning or drug-related, one with hyperthyroidism, two with unknown reason.@*Conclusions@#Among the numerous causes of rhabdomyolysis, exercise usually links nonspecific skeletal muscle changes and poisoning or drug-related disorders are commonly associated with necrotic myopathy. Rhabdomyolysis induced by primary myopathy is rare.
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Innate lymphoid cell is a type of immune cells that lineage-negative,but can be stimulated to produce inflammatory cytokines that people discovered in recent years.It can be classified into three classes (ILC1,ILC2,ILC3),according to its different functions.Type 2 innate lymphoid ceils(ILC2)have attracted much attention because it is closely related with parasites and asthma and other allergic diseases.This review focuses the ILC2 phenotypes and the discovery,distribution,relationships with disease.
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Objective To summary the pathological and genetic features in nine Chinese limb girdle muscular dystrophy 2I (LGMD2I) patients.Methods Nine LGMD2I patients were recruited from Peking University First Hospital between 2011 and 2016, who came from nine unrelated and non-consanguineous families.The mean age of onset was (8.2±5.2) years (2 to 19 years), and the mean disease duration was (10.4±6.1) years (1 to 24 years).There were six males and three females, present with weakness in limb girdle muscles, four of whom accompanied with calf hypertrophy and three with scapular winging.Serum creatine kinase was 964-23 131 U/L (normal 25-190 U/L).Five of them who conducted electromyogram showed myogenic pattern.Muscle biopsy and next generation sequencing were performed in these patients, then sanger sequencing was performed to determine whether the variants co-segregated with the phenotype in these families.Results Muscle biopsy revealed myopathy features in six patients, dystrophic change in one, and only mild changes in two.Major histocompatibility complex-Ⅰ was positive in six cases, and rimmed vacuoles were found in two.There were seven mutations in fukutin-related protein (FKRP) gene.A reported mutation of c.545A>G (p.Y182C) appeared in eight cases, including three homozygotes and five compound heterozygotes.The mutation of c.1067T>C (p.Ile356Thr) was reported too.And c.1263C>A (p.Tyr421X), c.534G>T(p.Thr178Cys), c.1027G>C (p.Glu343Gln), c.1027G>T(p.Glu343X), c.1448A>G (p.Tyr483Cys) were found to be novel mutations.Conclusions LGMD2I showed large variation in myopathology.The missense mutation A545G(Y182C) is a hot spot of FKRP gene in our series.
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Objective:To report thigh muscle magnetic resonance imaging (MRI)tests of four Chinese patients with dystrophinopathy with edema changes in adductor longus muscles that mimics adductor en-thesopathy.Methods:Four boys,who were from four unrelated families and aged from 5 to 11 years, were investigated because of the clinical manifestations including myalgia or muscle weakness or the inci-dental findings of elevated serum creatine kinase levels,and were diagnosed with dystrophinopathy by gene test of Duchenne muscular dystrophy (DMD).Their creatine kinase levels were increased from 4 087 IU /L to 32 700 IU /L (Normal range:75 -175 IU /L).The muscle biopsy of three patients all demonstrated a dystrophic pattern including necrosis,regeneration,hypertrophy,atrophy and connective tissue proliferation,with different proportions of dystrophin-negative muscle fibers.The gene test of DMD showed an out-frame deletion of exons in three of the four patients,involving either exons 45 or exons 49 -52 deletion or exon 62 duplication,and c.2665 C >T with nonsense mutation in the other one. Muscle MRI tests of the bilateral thighs were performed with T1 weighed sequence and slow tau inversion recovery sequence.The degree of fatty infiltration changes was scored.Results:MRI of the thigh mus-cles showed mild to severe fatty infiltration changes in T1 weighed sequence with the total scores from 2 to 13.The most severe fatty infiltration changes were in the long head of biceps femoris and adductor mag-nus.Obvious hyperintensities appeared mainly in the adductor longus muscles on slow tau inversion re-covery (STIR)images in all the patients without any abnormal signals in the attachment of the ligament, indicating edema changes of the adductor longus muscles which mimiced adductor enthesopathy.Two of the four patients presented with edema changes in the bilateral adductor longus muscles,while the other two were with only unilateral changes.Furthermore,other thigh muscles,including adductor magnus, semitendinosus,sartorius and rectus femoris muscles,could also have mild edema changes in two of the four patients.Conclusion:Dystrophinopathy can manifest as edema changes in the adductor longus mus-cles in thigh muscle MRI tests,which is a typical lesion in adductor enthesopathy.The adductor longus muscles in the dystrophinopathy patients may be easy to be impaired due to traction injury during sports.
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Objective:To describe a method based on analysis of the histogram of intensity values pro-duced from the magnetic resonance imaging (MRI)for quantifying the degree of fatty infiltration. Methods:The study included 25 patients with dystrophinopathy.All the subjects underwent muscle MRI test at thigh level.The histogram Mvalues of 250 muscles adjusted for subcutaneous fat,representing the degree of fatty infiltration,were compared with the expert visual reading using the modified Mercuri scale.Results:There was a significant positive correlation between the histogram Mvalues and the scores of visual reading (r =0.854,P <0.001).The distinct pattern of muscle involvement detected in the pa-tients with dystrophinopathy in our study of histogram M values was similar to that of visual reading and results in literature.The histogram M values had stronger correlations with the clinical data than the scores of visual reading as follows:the correlations with age (r =0.730,P <0.001 )and (r =0.753, P <0.001);with strength of knee extensor (r =-0.468,P =0.024)and (r =-0.460,P =0.027) respectively.Meanwhile,the histogram Mvalues analysis had better repeatability than visual reading with the interclass correlation coefficient was 0.998 (95% CI:0.997 -0.998,P <0.001)and 0.958 (95%CI:0.946 -0.967,P <0.001)respectively.Conclusion:Histogram Mvalues analysis of MRI with the advantages of repeatability and objectivity can be used to evaluate the degree of muscle fatty infiltration.