包涵体肌炎11例临床及组织病理报告

目的探讨包涵体肌炎的诊断标准.方法分析了11例包涵体肌炎病人的临床表现、组织化学.碱性刚果红染色 9例,电镜检查2例.结果全部病人均在42岁后发病,表现为远、近端肌肉力弱,2例肌电图检查显示肌源性改变,11例均有边缘着色性空泡及炎性改变,9例有淀粉样蛋白沉积物,有胞核或胞质细丝包涵体各1例.结论包涵体肌炎的所有诊断指标中,无一项有决定性或特征性,需要进行综合判断.     

包涵体肌炎11例临床及组织病理报告

目的 探讨包涵体肌炎的诊断标准。方法 分析了11例包涵体肌炎病人的临床表现、组织化学。碱性刚果红染色9例,电镜检查2例。结果 全部病人均在42岁后发病,表现为远、近端肌肉力弱,2例肌电图检查显示肌源性改变,11例均有边缘着色性空泡及炎性改变,9例有淀粉样蛋白沉积物,有胞核或胞质细丝包涵体各1例。结论 包涵体肌炎的所有诊断指标中,无一项有决定性或行征性,需要进行综合判断。     

3例包涵体肌炎的临床病理特点

<正> 资料和方法 例1:女,32岁。主诉双下肢无力4年,进行性加重。双上肢无力,喝水呛,吞咽困难2年,蹲下起不来,上楼困难,双小腿变细1年。无肌疼及肌束颤动。体格检查:神清、语利、双眼闭合不紧,示齿费力,鼓腮不能,鼻音重,咳嗽力弱。双侧肱二头肌、岗上肌、岗下肌肌力Ⅳ,双上肢远端肌力正常,双下肢股四头肌,腓肠肌,胫前肌肌力Ⅳ。肌张力低。双小腿肌萎缩明显。四肢腱反射消失。磷酸激酶65u/l,乳酸脱氢酶788u/l,谷草转氨酶22u/l,α-羟丁酸脱氢酶156u/l,自身抗体(一)、头颅CT(一),肌电图:肌源性损伤。     

三例包涵体肌炎的临床与病理特点

目的探讨包涵体肌炎（ＩＢＭ）的临床与病理特点。方法总结３例ＩＢＭ病人的临床特点，并对肌活检标本进行酶组织化学、组织化学病理和超微病理研究。结果３例女性病人均在２４～３６岁发病，其临床特点为以双下肢无力起病，渐累及上肢，远端肢体受累常见。腱反射消失，血清肌酸激酶正常或轻度增高，肌活检光镜检查发现其主要病理改变为镶边空泡纤维，肌浆或肌核内有嗜酸性包涵体，肌内膜炎性细胞浸润和成群萎缩肌纤维。电镜观察发现３例均有肌浆内细丝或管状细丝包涵体，其中１例有核内包涵体。镶边空泡内含淀粉样细丝、髓样结构、絮状无结构物质和其他胞浆分解产物。肌核改变包括异染色质增多、核变大，核内包涵体及核崩解。结论电镜包埋、半薄切片定位是电镜下寻找包涵体并确诊ＩＢＭ的关键步骤。肌核改变可能是ＩＢＭ的病因基础，镶边空泡和肌浆内包涵体有可能来自于崩解的肌核。     

包涵体肌炎1例报告

包涵体肌炎(IBM)临床少见，现报告1例经病理学证实的患者如下。     

伴有破碎红纤维的包涵体肌炎的临床及病理学特点(附1例报告)

目的 探讨伴有破碎红纤维的包涵体肌炎的临床及病理学特点.方法 回顾性分析1例伴有破碎红纤维的包涵体肌炎患者的临床资料.结果 本例为中年男性,四肢近端进行性肌萎缩,血清肌酶轻度增高,肌电图示肌源性损害.肌活检示部分萎缩的肌纤维出现镶边空泡,空泡内含有嗜碱性颗粒,部分坏死肌纤维有吞噬细胞及炎症细胞浸润,改良Gomori染色见破碎红纤维,细胞色素酶染色见蓝纤维;泛素染色示肌纤维中有泛素阳性物质沉积.mtDNA突变分析未见线粒体DNA突变.结论 伴有破碎红纤维的包涵体肌炎以近端肌肉受损为著,病理表现除包涵体和炎症性改变外,还存在代谢紊乱和异常折叠的蛋白沉积的特征.     

散发性包涵体肌炎临床病理分析

目的探讨散发性包涵体肌炎(sIBM)患者的临床及病理特点。方法收集2例于2008年至2010年就诊并明确诊断为s1BM的患者临床、病理资料。两例患者均有股四头肌无力和萎缩,1例出现肢体远端无力和上肢无力。2例患者均进行了肌肉活体组织检查标本的组织学、酶组织化学染色和免疫组织化学染色。结果 2例患者肌酶均轻度升高。肌电图检查示1例呈肌源性损害,1例呈神经源性损害。2例患者的骨骼肌主要病理改变都是肌内衣炎细胞浸润、肌纤维萎缩,肌纤维内嗜碱性镶边空泡。免疫组织化学染色提示CD8+淋巴细胞浸润为主,1例患者镶边空泡肌纤维内Ubiquitin染色阳性。结论本文2例sIBM以股四头肌损害明显,病情缓慢进展,依靠肌肉活检确定诊断。     

散发性包涵体肌炎七例临床及病理特点

目的探讨散发性包涵体肌炎（sIBM）患者的临床及病理诊断规律。方法收集7例于2001年至2005年就诊并明确诊断为sIBM的患者临床、病理资料，发病年龄为41—75岁，平均57．4岁，病程2～10年，平均5．4年。全部患者均有股四头肌无力和萎缩，4例出现肢体远端无力，1例出现延髓部和颈部无力。其中伴随高血压和腔隙性脑梗死者2例，伴随脑出血、周围神经病和糖尿病各1例。7例患者均进行了肌肉活体组织检查标本的组织学、酶组织化学染色，5例进行电镜检查，3例进行了tau蛋白免疫组织化学染色。结果7例患者肌酶均升高，但未超过正常上限8倍。肌电图检查示5例呈肌源性损害，2例呈神经源性损害。所有患者的骨骼肌病理改变主要是肌内衣炎细胞浸润、肌纤维直径变异加大和镶边空泡（出现率2％一10％），5例出现不整红边纤维，3例有细胞色素C氧化酶染色阴性肌纤维。5例进行电镜检查者均存在管丝包涵体。3例免疫组织化学染色者均显示肌纤维内tau蛋白沉积。结论sIBM以股四头肌损害最明显，常合并其他老年性疾病。肌纤维内出现tau蛋白也可以作为该病诊断标准之一。     

包涵体肌炎（附1例报告并文献复习）

报道一例包涵体肌炎患者，女，２５岁。表现为缓慢进展的两下肢无力５年，近半年两上肢亦无力。两侧肩胛带及骨盆带肌肉轻度萎缩，肌电图示轻收缩时运动电位平均时限缩短，多相电位增多。肌活检见部分肌纤维内出现空泡，在空泡的边缘或空泡内有嗜盐基性颗粒状物质，Ⅰ型、Ⅱ型肌纤维均受累。结合文献对其病因、临床表现、肌肉病理改变、诊断和治疗进行了讨论     

包涵体肌炎的临床与肌活检特征

包涵体肌炎 (inclusion- body myositis IBM)是一种少见的特发性炎性肌病。自 1971年 yumis首先使用 IBM这一名称以来 ,至今国外已报道 2 0 0余例 ,国内报道较少。本文报道 1例经电镜证实的 IDM,并对其临床表现与肌活检特征结合文献复习讨论。临　床　资　料　　患者 ,男 ,18岁 ,进行性双下肢乏力 ,肌肉变细 3年于2 0 0 0年 8月 2 3日入院。 3年前无明显诱因出现双下肢乏力 ,上楼梯困难 ,行走易疲劳 ,下蹲立起困难 ,无肢体麻木、酸痛 ,二便正常 ,二年前腰椎 MRI检查 ,未发现明显异常 ,渐渐出现双下肢变细。既往素健 ,无脑炎 ,中毒性脑…     

Dermatomyositis with inclusion body myositis pathology

The pathogenic role of inflammation in inclusion body myositis (IBM) remains uncertain. A 63‐year‐old man developed a severe, rapidly progressive myopathy with clinical features typical of dermatomyositis (DM), but muscle pathology was typical of IBM. Treatment with prednisone and methotrexate resulted in complete remission of symptoms. Together with two similar cases reported previously, this case suggests that the inflammatory process of DM may trigger the pathologic changes of IBM. Muscle Nerve, 2009     

Demographic and clinical features of inclusion body myositis in north America

Introduction: Few studies of the demographics, natural history, and clinical management of inclusion body myositis (IBM) have been performed in a large patient population. To more accurately define these characteristics, we developed and distributed a questionnaire to patients with IBM. Methods: A cross‐sectional, self‐reporting survey was conducted. Results: The mean age of the 916 participants was 70.4 years, the male‐to‐female ratio was 2:1, and the majority reported difficulty with ambulation and activities of daily living. The earliest symptoms included impaired use and weakness of arms and legs. The mean time from first symptoms to diagnosis was 4.7 years. Half reported that IBM was their initial diagnosis. A composite functional index negatively associated with age and disease duration, and positively associated with participation in exercise. Conclusions: These data are valuable for informing patients how IBM manifestations are expected to impair daily living and indicate that self‐reporting could be used to establish outcome measures in clinical trials. Muscle Nerve 52: 527–533, 2015     

Prognosis and prognostic factors in sporadic inclusion body myositis

Objectives – To describe the course of change in muscle strength sporadic inclusion body myositis (IBM) patients. Material and methods – We have studied a cohort of 66 IBM pateints using a hand‐held dynamometer. Results – Follow‐up during a mean of 61.1 months showed a deterioration of on average ?0.79% per month. The ‘natural course’ without immunosuppressive treatment (IS), analyzed in 43 patients (mean 46.4 months) was mean ?1.03% per month. Loss of muscle power was most rapid in knee extension ?1.12% (P < 0.001 when compared with elbow flexion, elbow extension and hip flexion). There was a tendency towards a more rapid decline in males than females and over the first 5 years after onset, while the level of serum creatine kinase (CK), age, or region affected at onset did not predict the prognosis. The mean change during periods with any IS treatment was ?0.76% per month which was significantly lower compared to the total of untreated periods ?1.03% (P < 0.05). Patients (n = 13) treated with mykofenolatmofetil showed a better prognosis of ?0.67% per month (P < 0.05). In this group elbow flexion and extension and hip flexion showed a positive response, while knee extension was seemingly unaffected. Conclusions – There is a mean of 1% loss in power per month in the untreated IBM patient – the rate of loss was greater in the quadriceps muscle and in untreated compared with IS‐treated patients.     

Medication of inclusion body myositis: a systematic review

To investigate the existing evidence on the effectiveness of approaches to treating inclusion body myositis and to assess the methodological quality of this evidence. The Cochrane Controlled Trials Register (CENTRAL), Medline, Embase, Cinahl, Physiotherapy Evidence (Pedro), McMaster and Web of Science databases were searched. The references of identified articles and reviews were also checked for relevancy. The methodological quality was assessed according to the Cochrane Collaboration's domain‐based evaluation framework. Of the 331 identified records, 10 were considered relevant for a qualitative analysis. The risk of bias was considered being low for six studies and high for four. Eight studies were randomized controlled trials, and two were controlled clinical trials. In the samples, male gender predominated, and the mean age of the participants varied from 51 to 72 years. The duration of intervention varied from 3 to 17 months. One small trial on the effect of oxandrolone reported a significant positive result. The other trials observed no improvement or insignificant improvement among the participants treated with intravenous immunoglobulin, methotrexate, etanercept or interferon. Thus far, there is no evidence indicating that any specific treatment is the effective in treating inclusion body myositis.     

Immune-mediated conditions and antibodies associated with sporadic inclusion body myositis

We reviewed 99 patients with sporadic inclusion body myositis (IBM), searching for a coexisting autoimmune disease, other conditions with altered immune function, or the presence of autoantibodies. Thirteen patients had one or more of 11 diseases with altered immune function. Forty-three patients had elevated titers of one or more of nine different, albeit nondisease-specific, autoantibodies. Twenty-five patients had dysproteinemia or dysproteinuria. We conclude that IBM is frequently associated with systemic immune disorders or nonspecific autoantibodies. Although aging may explain some of these phenomena, an altered immune function need to be considered in the pathogenesis of IBM. © 1998 John Wiley & Sons, Inc. Muscle Nerve, 21: 115–117, 1998.     

Electrophysiological spectrum of inclusion body myositis

We present electrodiagnostic data on 30 patients with inclusion body myositis (IBM) in order to better delineate its electrophysiological features. Comprehensive electromyography (EMG) and nerve conduction studies (NCS) were performed in all cases. Twelve patients had single fiber electromyography (SFEMG). EMG showed abundant short-small motor unit potentials (MUP) with fibrillations and positive sharp waves in 56.6% of patients, and a mixed pattern of large and small MUP in 36.7%. In 6.7%, only "neurogenic" features were seen. NCS were slow in 33.3%. SFEMG revealed a mildly abnormal jitter and a slightly increased fiber density. IBM demonstrates a heterogeneous EMG profile. A pattern of large and small MUP is highly suggestive of IBM but is seen in only about one third of cases.     

TREX1 mutations are not associated with sporadic inclusion body myositis

Background: Sporadic inclusion body myositis (sIBM) is the most frequent acquired myopathy above the age of fifty. The exact mechanism causing this disease is not known, but immune‐mediated features are prominent and are probably to play a role in its pathogenesis. TREX1 gene mutations are associated with a large range of autoimmune diseases, such as systemic lupus erythematosus. We investigated whether mutations in the TREX1 gene were associated with sIBM. Methods: Fifty‐four patients with sIBM were tested for TREX1 mutations by direct sequencing. Results: All 54 patients tested negative for pathogenic mutations in the TREX1 gene. One presumed non‐pathogenic polymorphism was found in 42 out of 54 patients. Conclusion: TREX1 mutations do not play a role in the pathogenesis of sIBM.     

Sporadic inclusion body myositis: HLA-DRB1 allele interactions influence disease risk and clinical phenotype

Susceptibility to sIBM is strongly associated with the HLA-DRB1*03 allele and the 8.1 MHC ancestral haplotype (HLA-A1, B8, DRB1*03) but little is known about the effects of allelic interactions at the DRB1 locus or disease-modifying effects of HLA alleles. HLA-A, B and DRB1 genotyping was performed in 80 Australian sIBM cases and the frequencies of different alleles and allele combinations were compared with those in a group of 190 healthy controls. Genotype–phenotype correlations were also investigated. Amongst carriers of the HLA-DRB1*03 allele, DRB1*03/*01 heterozygotes were over-represented in the sIBM group (p < 0.003) while. DRB1*03/*04 heterozygotes were under-represented (p < 0.008). The mean age-at-onset (AAO) was 6.5 years earlier in DRB1*03/*01 heterozygotes who also had more severe quadriceps muscle weakness than the rest of the cohort. The findings indicate that interactions between the HLA-DRB1*03 allele and other alleles at the DRB1 locus can influence disease susceptibility and the clinical phenotype in sIBM.     

Sarcoplasmic redistribution of nuclear TDP‐43 in inclusion body myositis

The nucleic acid binding protein TDP‐43 was recently identified in normal myonuclei and in the sarcoplasm of inclusion body myositis (IBM) muscle. Here we found TDP‐43 sarcoplasmic immunoreactivity in 23% of IBM myofibers, while other reported IBM biomarkers were less frequent, with rimmed vacuoles in 2.8%, fluorescent Congo red material in 0.57%, SMI‐31 immunoreactivity in 0.83%, and focal R1282 beta‐amyloid immunoreactivity in 0.00% of myofibers. The presence of as little as >1% of myofibers with nonnuclear sarcoplasmic TDP‐43 was highly sensitive (91%) and specific (100%) to IBM among 50 inflammatory myopathy patient samples, although some patients with hereditary inclusion body myopathies and myofibrillar myopathy also had sarcoplasmic TDP‐43. TDP‐43 mutations were sought, and none were identified. TDP‐43 could be one of many nucleic acid binding proteins that are abnormally present in IBM sarcoplasm. They could potentially interfere with the normal function of extranuclear RNAs that maintain myofiber protein production. Muscle Nerve 40: 19–31, 2009